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1
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New stimuli for old

Mazur, Paul

The Atlantic Monthly (1857-1932), Apr 1930, Vol.145(000004), p.546

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2
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Geranylgeranyltransferase I of Candida albicans: Null mutants or enzyme inhibitors produce unexpected phenotypes

Kelly, Rosemarie ; Card, Deborah ; Register, Elizabeth ; Mazur, Paul

Journal of Bacteriology, Feb 2000, Vol.182(3), pp.704-713 [Peer Reviewed Journal]

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Characteristics of undiagnosed diseases network applicants: implications for referring providers

Walley, Nicole M ; Pena, Loren D M ; Hooper, Stephen R ; Cope, Heidi ; Jiang, Yong-Hui ; Mcconkie-Rosell, Allyn ; Sanders, Camilla ; Schoch, Kelly ; Spillmann, Rebecca C ; Strong, Kimberly ; Mccray, Alexa T ; Mazur, Paul ; Esteves, Cecilia ; Leblanc, Kimberly ; Wise, Anastasia L ; Shashi, Vandana

BMC health services research, 22 August 2018, Vol.18(1), pp.652 [Peer Reviewed Journal]

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4
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3-carboxy-cis, cis-muconate lactonizing enzyme from Neurospora crassa: An alternate cycloisomerase motif

Mazur, Paul ; Henzel, William ; Mattoo, Seema ; Kozarich, John

Journal of Bacteriology, Mar 1994, Vol.176(6), p.1718 [Peer Reviewed Journal]

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5
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Heart block in systemic lupus erythematosus complicated by Pacemaker “exit block”

Olken, David ; Volastro, Philip ; Finck, David ; Tulgan, Henry ; Mazur, Paul

Arthritis & Rheumatism, January 1991, Vol.34(1), pp.121-123 [Peer Reviewed Journal]

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6
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Structural elucidation of sporogenic fatty acid metabolites from aspergillus nidulans

Mazur, Paul ; Meyers, Harold V ; Nakanishi, Koji ; A, Atef Ebrahim El-Zayat ; Champe, Sewell P

Tetrahedron Letters, 1990, Vol.31(27), pp.3837-3840 [Peer Reviewed Journal]

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7
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Developmental validation of the PowerPlex 16 HS System: an improved 16-locus fluorescent STR multiplex

Ensenberger, Martin G ; Thompson, Jonelle ; Hill, Becky ; Homick, Kristen ; Kearney, Veronica ; Mayntz-Press, Kathleen A ; Mazur, Paul ; Mcguckian, Amy ; Myers, Jelena ; Raley, Kelli ; Raley, Stewart G ; Rothove, Robin ; Wilson, Jonathan ; Wieczorek, Doug ; Fulmer, Patricia M ; Storts, Douglas R ; Krenke, Benjamin E

Forensic science international. Genetics, July 2010, Vol.4(4), pp.257-64 [Peer Reviewed Journal]

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8
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Separation of carotenes on cyclodextrin-bonded phases

Stalcup, Apryll M ; Jin, Heng L ; Armstrong, Daniel W ; Mazur, Paul ; Derguini, Fadila ; Nakanishi, Koji

Journal of Chromatography A, 1990, Vol.499, pp.627-635 [Peer Reviewed Journal]

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Discovery of betamethasone 17α-carbamates as dissociated glucocorticoid receptor modulators in the rat

Ali, Amjad ; Balkovec, James M ; Greenlee, Mark ; Hammond, Milton L ; Rouen, Greg ; Taylor, Gayle ; Einstein, Monica ; Ge, Lan ; Harris, Georgianna ; Kelly, Terri M ; Mazur, Paul ; Pandit, Shilpa ; Santoro, Joseph ; Sitlani, Ayesha ; Wang, Chuanlin ; Williamson, Joann ; Forrest, Michael J ; Carballo-Jane, Ester ; Luell, Silvi ; Lowitz, Karen

Bioorganic & Medicinal Chemistry, 2008, Vol.16(16), pp.7535-7542 [Peer Reviewed Journal]

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Loss of the Plasma Membrane-Bound Protein Gas1p inSaccharomyces cerevisiae Results in the Release of β1,3-Glucan into the Medium and Induces a Compensation Mechanism To Ensure Cell Wall Integrity
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Loss of the Plasma Membrane-Bound Protein Gas1p inSaccharomyces cerevisiae Results in the Release of β1,3-Glucan into the Medium and Induces a Compensation Mechanism To Ensure Cell Wall Integrity

Ram, Arthur F. J. ; Kapteyn, Johan C. ; Montijn, Roy C. ; Caro, L. Heleen P. ; Douwes, Jeroen E. ; Baginsky, Walter ; Mazur, Paul ; van Den Ende, Herman ; Klis, Frans M.

Journal of Bacteriology, 1998, Vol.180(6), pp.1418-1424 [Peer Reviewed Journal]

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Novel N-arylpyrazolo3,2-c-based ligands for the glucocorticoid receptor: receptor binding and in vivo activity

Ali, Amjad ; Thompson, Christopher F ; Balkovec, James M ; Graham, Donald W ; Hammond, Milton L ; Quraishi, Nazia ; Tata, James R ; Einstein, Monica ; Ge, Lan ; Harris, Georgianna ; Kelly, Terri M ; Mazur, Paul ; Pandit, Shilpa ; Santoro, Joseph ; Sitlani, Ayesha ; Wang, Chuanlin ; Williamson, Joanne ; Miller, Douglas K ; Thompson, Chris M ; Zaller

Journal of medicinal chemistry, 06 May 2004, Vol.47(10), pp.2441-52 [Peer Reviewed Journal]

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12
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Determination of focusing properties of solar collectors by an integral formula

Mazur, Paul

Solar Energy, 1962, Vol.6(1), pp.23-26 [Peer Reviewed Journal]

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13
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Chao, Hsiao-Tuan ; Davids, Mariska ; Burke, Elizabeth ; Pappas, John G. ; Rosenfeld, Jill A. ; Mccarty, Alexandra J. ; Davis, Taylor ; Wolfe, Lynne ; Toro, Camilo ; Tifft, Cynthia ; Xia, Fan ; Stong, Nicholas ; Johnson, Travis K. ; Warr, Coral G. ; Yamamoto, Shinya ; Adams, David R. ; Markello, Thomas C. ; Gahl, William A. ; Bellen, Hugo J. ; Wangler, Michael F. ; Malicdan, May Christine V. ; Adams, David R. ; Adams, Christopher J. ; Alejandro, Mercedes E. ; Allard, Patrick ; Ashley, Euan A. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Barseghyan, Hayk ; Beggs, Alan H. ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Bick, David P. ; Birch, Camille L. ; Boone, Braden E. ; Briere, Lauren C. ; Brown, Donna M. ; Brush, Matthew ; Burrage, Lindsay C. ; Chao, Katherine R. ; Clark, Gary D. ; Cogan, Joy D. ; Cooper, Cynthia M. ; Craigen, William J. ; Davids, Mariska ; Dayal, Jyoti G. ; Dell'Angelica, Esteban C. ; Dhar, Shweta U. ; Dipple, Katrina M. ; Donnell-Fink, Laurel A. ; Dorrani, Naghmeh ; Dorset, Dan C. ; Draper, David D. ; Dries, Annika M. ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Estwick, Tyra ; Fisher, Paul G. ; Frisby, Trevor S. ; Frost, Kate ; Gahl, William A. ; Gartner, Valerie ; Godfrey, Rena A. ; Goheen, Mitchell ; Golas, Gretchen A. ; Goldstein, David B. ; Gordon, Mary “gracie” G. ; Gould, Sarah E. ; Gourdine, Jean-Philippe F. ; Graham, Brett H. ; Groden, Catherine A. ; Gropman, Andrea L. ; Hackbarth, Mary E. ; Haendel, Melissa ; Hamid, Rizwan ; Hanchard, Neil A. ; Handley, Lori H. ; Hardee, Isabel ; Herzog, Matthew R. ; Holm, Ingrid A. ; Howerton, Ellen M. ; Jacob, Howard J. ; Jain, Mahim ; Jiang, Yong-Hui ; Johnston, Jean M. ; Jones, Angela L. ; Koehler, Alanna E. ; Koeller, David M. ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Krasnewich, Donna M. ; Krieg, Elizabeth L. ; Krier, Joel B. ; Kyle, Jennifer E. ; Lalani, Seema R. ; Latham, Lea ; Latour, Yvonne L. ; Lau, C. Christopher ; Lazar, Jozef ; Lee, Brendan H. ; Lee, Hane ; Lee, Paul R. ; Levy, Shawn E. ; Levy, Denise J. ; Lewis, Richard A. ; Liebendorder, Adam P. ; Lincoln, Sharyn A. ; Loomis, Carson R. ; Loscalzo, Joseph ; Maas, Richard L. ; Macnamara, Ellen F. ; Macrae, Calum A. ; Maduro, Valerie V. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Manolio, Teri A. ; Markello, Thomas C. ; Mashid, Azamian S. ; Mazur, Paul ; Mccarty, Alexandra J. ; Mcconkie-Rosell, Allyn ; Mccray, Alexa T. ; Metz, Thomas O. ; Might, Matthew ; Moretti, Paolo M. ; Mulvihill, John J. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Nelson, Stan F. ; Newberry, J. Scott ; Newman, John H. ; Nicholas, Sarah K. ; Novacic, Donna ; Orange, Jordan S. ; Pallais, J. Carl ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Pena, Loren D.M. ; Phillips, John A. ; Posey, Jennifer E. ; Postlethwait, John H. ; Potocki, Lorraine ; Pusey, Barbara N. ; Ramoni, Rachel B. ; Rodan, Lance H. ; Sadozai, Sarah ; Schaffer, Katherine E. ; Schoch, Kelly ; Schroeder, Molly C. ; Scott, Daryl A. ; Sharma, Prashant ; Shashi, Vandana ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Soldatos, Ariane G. ; Spillmann, Rebecca C. ; Splinter, Kimberly ; Stoler, Joan M. ; Stong, Nicholas ; Strong, Kimberly A. ; Sullivan, Jennifer A. ; Sweetser, David A. ; Thomas, Sara P. ; Tift, Cynthia J. ; Tolman, Nathanial J. ; Toro, Camilo ; Tran, Alyssa A. ; Valivullah, Zaheer M. ; Vilain, Eric ; Waggott, Daryl M. ; Wahl, Colleen E. ; Walley, Nicole M. ; Walsh, Chris A. ; Wangler, Michael F. ; Warburton, Mike ; Ward, Patricia A. ; Waters, Katrina M. ; Webb-Robertson, Bobbie-Jo M. ; Weech, Alec A. ; Westerfield, Monte ; Wheeler, Matt T. ; Wise, Anastasia L. ; Worthe, Lynne A. ; Worthey, Elizabeth A. ; Yamamoto, Shinya ; Yang, Yaping ; Yu, Guoyun ; Zornio, Patricia A.

The American Journal of Human Genetics, 01/2017, Vol.100(1), pp.128-137 [Peer Reviewed Journal]

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14
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Wang, Julia ; Al-Ouran, Rami ; Hu, Yanhui ; Kim, Seon-Young ; Wan, Ying-Wooi ; Wangler, Michael F. ; Yamamoto, Shinya ; Chao, Hsiao-Tuan ; Comjean, Aram ; Mohr, Stephanie E. ; Perrimon, Norbert ; Liu, Zhandong ; Bellen, Hugo J. ; Adams, Christopher J. ; Adams, David R. ; Alejandro, Mercedes E. ; Allard, Patrick ; Ashley, Euan A. ; Azamian, Mashid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Barseghyan, Hayk ; Beggs, Alan H. ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Bican, Anna ; Bick, David P. ; Birch, Camille L. ; Boone, Braden E. ; Briere, Lauren C. ; Brown, Donna M. ; Brush, Matthew ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Chao, Katherine R. ; Clark, Gary D. ; Cogan, Joy D. ; Cooper, Cynthia M. ; Craigen, William J. ; Davids, Mariska ; Dayal, Jyoti G. ; Dell’angelica, Esteban C. ; Dhar, Shweta U. ; Dipple, Katrina M. ; Donnell-Fink, Laurel A. ; Dorrani, Naghmeh ; Dorset, Daniel C. ; Draper, David D. ; Dries, Annika M. ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Estwick, Tyra ; Fisher, Paul G. ; Frisby, Trevor S. ; Frost, Kate ; Gahl, William A. ; Gartner, Valerie ; Godfrey, Rena A. ; Goheen, Mitchell ; Golas, Gretchen A. ; Goldstein, David B. ; Gordon, Mary G. ; Gould, Sarah E. ; Gourdine, Jean-Philippe F. ; Graham, Brett H. ; Groden, Catherine A. ; Gropman, Andrea L. ; Hackbarth, Mary E. ; Haendel, Melissa ; Hamid, Rizwan ; Hanchard, Neil A. ; Handley, Lori H. ; Hardee, Isabel ; Herzog, Matthew R. ; Holm, Ingrid A. ; Howerton, Ellen M. ; Jacob, Howard J. ; Jain, Mahim ; Jiang, Yong-Hui ; Johnston, Jean M. ; Jones, Angela L. ; Koehler, Alanna E. ; Koeller, David M. ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Krasnewich, Donna M. ; Krieg, Elizabeth L. ; Krier, Joel B. ; Kyle, Jennifer E. ; Lalani, Seema R. ; Latham, Lea ; Latour, Yvonne L. ; Lau, C. Christopher ; Lazar, Jozef ; Lee, Brendan H. ; Lee, Hane ; Lee, Paul R. ; Levy, Shawn E. ; Levy, Denise J. ; Lewis, Richard A. ; Liebendorfer, Adam P. ; Lincoln, Sharyn A. ; Loomis, Carson R. ; Loscalzo, Joseph ; Maas, Richard L. ; Macnamara, Ellen F. ; Macrae, Calum A. ; Maduro, Valerie V. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Manolio, Teri A. ; Markello, Thomas C. ; Mazur, Paul ; Mccarty, Alexandra J. ; Mcconkie-Rosell, Allyn ; Mccray, Alexa T. ; Metz, Thomas O. ; Might, Matthew ; Moretti, Paolo M. ; Mulvihill, John J. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Nelson, Stan F. ; Newberry, J. Scott ; Newman, John H. ; Nicholas, Sarah K. ; Novacic, Donna ; Orange, Jordan S. ; Pallais, J. Carl ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Pena, Loren D.M. ; Phillips, John A. ; Posey, Jennifer E. ; Postlethwait, John H. ; Potocki, Lorraine ; Pusey, Barbara N. ; Ramoni, Rachel B. ; Robertson, Amy K. ; Rodan, Lance H. ; Rosenfeld, Jill A. ; Sadozai, Sarah ; Schaffer, Katherine E. ; Schoch, Kelly ; Schroeder, Molly C. ; Scott, Daryl A. ; Sharma, Prashant ; Shashi, Vandana ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Soldatos, Ariane G. ; Spillmann, Rebecca C. ; Splinter, Kimberly ; Stoler, Joan M. ; Stong, Nicholas ; Strong, Kimberly A. ; Sullivan, Jennifer A. ; Sweetser, David A. ; Thomas, Sara P. ; Tifft, Cynthia J. ; Tolman, Nathanial J. ; Toro, Camilo ; Tran, Alyssa A. ; Valivullah, Zaheer M. ; Vilain, Eric ; Waggott, Daryl M. ; Wahl, Colleen E. ; Walley, Nicole M. ; Walsh, Chris A. ; Wangler, Michael F. ; Warburton, Mike ; Ward, Patricia A. ; Waters, Katrina M. ; Webb-Robertson, Bobbie-Jo M. ; Weech, Alec A. ; Westerfield, Monte ; Wheeler, Matthew T. ; Wise, Anastasia L. ; Wolfe, Lynne A. ; Worthey, Elizabeth A. ; Yamamoto, Shinya ; Yang, Yaping ; Yu, Guoyun ; Zornio, Patricia A.

The American Journal of Human Genetics, 06/2017, Vol.100(6), pp.843-853 [Peer Reviewed Journal]

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15
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Schoch, Kelly ; Meng, Linyan ; Szelinger, Szabolcs ; Bearden, David R. ; Stray-Pedersen, Asbjorg ; Busk, Oyvind L. ; Stong, Nicholas ; Liston, Eriskay ; Cohn, Ronald D. ; Scaglia, Fernando ; Rosenfeld, Jill A. ; Tarpinian, Jennifer ; Skraban, Cara M. ; Deardorff, Matthew A. ; Friedman, Jeremy N. ; Akdemir, Zeynep Coban ; Walley, Nicole ; Mikati, Mohamad A. ; Kranz, Peter G. ; Jasien, Joan ; Mcconkie-Rosell, Allyn ; Mcdonald, Marie ; Wechsler, Stephanie Burns ; Freemark, Michael ; Kansagra, Sujay ; Freedman, Sharon ; Bali, Deeksha ; Millan, Francisca ; Bale, Sherri ; Nelson, Stanley F. ; Lee, Hane ; Dorrani, Naghmeh ; Goldstein, David B. ; Xiao, Rui ; Yang, Yaping ; Posey, Jennifer E. ; Martinez-Agosto, Julian A. ; Lupski, James R. ; Wangler, Michael F. ; Shashi, Vandana ; Nelson, Stanley F. ; Grody, Wayne W. ; Lee, Hane ; Strom, Samuel P. ; Vilain, Eric ; Deignan, Joshua ; Quintero-Rivera, Fabiola ; Kantarci, Sibel ; Dorrani, Naghmeh ; Mullegama, Sureni ; Kang, Sung-Hae ; Szelinger, Szabolcs ; Alejandro, Mercedes E. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Burrage, Lindsay C. ; Clark, Gary D. ; Craigen, William J. ; Dhar, Shweta U. ; Emrick, Lisa T. ; Graham, Brett H. ; Hanchard, Neil A. ; Jain, Mahim ; Lalani, Seema R. ; Lee, Brendan H. ; Lewis, Richard A. ; Mashid, Azamian S. ; Moretti, Paolo M. ; Nicholas, Sarah K. ; Orange, Jordan S. ; Posey, Jennifer E. ; Potocki, Lorraine ; Rosenfeld, Jill A. ; Scott, Daryl A. ; Tran, Alyssa A. ; Bellen, Hugo J. ; Wangler, Michael F. ; Yamamoto, Shinya ; Eng, Christine M. ; Muzny, Donna M. ; Ward, Patricia A. ; Yang, Yaping ; Gropman, Andrea L. ; Goldstein, David B. ; Stong, Nicholas ; Jiang, Yong-Hui ; Mcconkie-Rosell, Allyn ; Pena, Loren D.M. ; Schoch, Kelly ; Shashi, Vandana ; Spillmann, Rebecca C. ; Sullivan, Jennifer A. ; Walley, Nicole M. ; Beggs, Alan H. ; Briere, Lauren C. ; Cooper, Cynthia M. ; Donnell-Fink, Laurel A. ; Krieg, Elizabeth L. ; Krier, Joel B. ; Lincoln, Sharyn A. ; Loscalzo, Joseph ; Maas, Richard L. ; Macrae, Calum A. ; Pallais, J. Carl ; Rodan, Lance H. ; Silverman, Edwin K. ; Stoler, Joan M. ; Sweetser, David A. ; Walsh, Chris A. ; Esteves, Cecilia ; Holm, Ingrid A. ; Kohane, Isaac S. ; Mazur, Paul ; Mccray, Alexa T. ; Might, Matthew ; Ramoni, Rachel B. ; Splinter, Kimberly ; Bick, David P. ; Birch, Camille L. ; Boone, Braden E. ; Brown, Donna M. ; Dorset, Dan C. ; Handley, Lori H. ; Jacob, Howard J. ; Jones, Angela L. ; Lazar, Jozef ; Levy, Shawn E. ; Newberry, J. Scott ; Schroeder, Molly C. ; Strong, Kimberly A. ; Worthey, Elizabeth A. ; Dayal, Jyoti G. ; Eckstein, David J. ; Gould, Sarah E. ; Howerton, Ellen M. ; Krasnewich, Donna M. ; Loomis, Carson R. ; Mamounas, Laura A. ; Manolio, Teri A. ; Mulvihill, John J. ; Wise, Anastasia L. ; Soldatos, Ariane G. ; Brush, Matthew ; Gourdine, Jean-Philippe F. ; Haendel, Melissa ; Koeller, David M. ; Kyle, Jennifer E. ; Metz, Thomas O. ; Waters, Katrina M. ; Webb-Robertson, Bobbie-Jo M. ; Ashley, Euan A. ; Bernstein, Jonathan A. ; Dries, Annika M. ; Fisher, Paul G. ; Kohler, Jennefer N. ; Waggott, Daryl M. ; Wheeler, Matt T. ; Zornio, Patricia A. ; Allard, Patrick ; Barseghyan, Hayk ; Dell’angelica, Esteban C. ; Dipple, Katrina M. ; Dorrani, Naghmeh ; Herzog, Matthew R. ; Lee, Hane ; Nelson, Stan F. ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Sinsheimer, Janet S. ; Vilain, Eric ; Adams, Christopher J. ; Burke, Elizabeth A. ; Chao, Katherine R. ; Davids, Mariska ; Draper, David D. ; Estwick, Tyra ; Frisby, Trevor S. ; Frost, Kate ; Gartner, Valerie ; Godfrey, Rena A. ; Goheen, Mitchell ; Golas, Gretchen A. ; Gordon, Mary “gracie” G. ; Groden, Catherine A. ; Hackbarth, Mary E. ; Hardee, Isabel ; Johnston, Jean M. ; Koehler, Alanna E. ; Latham, Lea ; Latour, Yvonne L. ; Lau, C. Christopher ; Levy, Denise J. ; Liebendorder, Adam P. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Markello, Thomas C. ; Mccarty, Alexandra J. ; Murphy, Jennifer L. ; Nehrebecky, Michele E. ; Novacic, Donna ; Pusey, Barbara N. ; Sadozai, Sarah ; Schaffer, Katherine E. ; Sharma, Prashant ; Thomas, Sara P. ; Tolman, Nathanial J. ; Toro, Camilo ; Valivullah, Zaheer M. ; Wahl, Colleen E. ; Warburton, Mike ; Weech, Alec A. ; Yu, Guoyun ; Adams, David R. ; Gahl, William A. ; Malicdan, May Christine V. ; Tifft, Cynthia J. ; Wolfe, Lynne A. ; Lee, Paul R. ; Postlethwait, John H. ; Westerfield, Monte ; Bican, Anna ; Hamid, Rizwan ; Newman, John H. ; Phillips, John A. ; Robertson, Amy K. ; Cogan, Joy D.

The American Journal of Human Genetics, 02/2017, Vol.100(2), pp.343-351 [Peer Reviewed Journal]

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16
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Shashi, Vandana ; Pena, Loren D.M. ; Kim, Katherine ; Burton, Barbara ; Hempel, Maja ; Schoch, Kelly ; Walkiewicz, Magdalena ; Mclaughlin, Heather M. ; Cho, Megan ; Stong, Nicholas ; Hickey, Scott E. ; Shuss, Christine M. ; Freemark, Michael S. ; Bellet, Jane S. ; Keels, Martha Ann ; Bonner, Melanie J. ; El-Dairi, Maysantoine ; Butler, Megan ; Kranz, Peter G. ; Stumpel, Constance T.R.M. ; Klinkenberg, Sylvia ; Oberndorff, Karin ; Alawi, Malik ; Santer, Rene ; Petrovski, Slavé ; Kuismin, Outi ; Korpi-Heikkilä, Satu ; Pietilainen, Olli ; Aarno, Palotie ; Kurki, Mitja I. ; Hoischen, Alexander ; Need, Anna C. ; Goldstein, David B. ; Kortüm, Fanny ; Bacino, A. ; Lee, Brendan H. ; Balasubramanyam, Ashok ; Burrage, Lindsay C. ; Clark, Gary D. ; Craigen, William J. ; Dhar, Shweta U. ; Emrick, Lisa T. ; Graham, Brett H. ; Jain, Mahim ; Lalani, Seema R. ; Lewis, Richard A. ; Moretti, Paolo M. ; Nicholas, Sarah K. ; Orange, Jordan S. ; Posey, Jennifer E. ; Potocki, Lorraine ; Rosenfeld, Jill A. ; Scott, Daryl A. ; Hanchard, Neil A. ; Alyssa, Tran A. ; Mercedes, Alejandro E. ; Mashid, Azamian S. ; Bellen, Hugo J. ; Yamamoto, Shinya ; Wangler, Michael F. ; Westerfield, Monte ; Postlethwait, John H. ; Eng, Christine M. ; Yang, Yaping ; Muzny, Donna M. ; Ward, Patricia A. ; Ramoni, Rachel B. ; Mccray, Alexa T. ; Kohane, Issac S. ; Holm, Ingrid A. ; Might, Matthew ; Mazur, Paul ; Splinter, Kimberly ; Esteves, Cecilia ; Shashi, Vandana ; Jiang, Yong-Hui ; Pena, Loren D.M. ; Mcconkie-Rosell, Allyn ; Schoch, Kelly ; Spillmann, Rebecca C. ; Sullivan, Jennifer A. ; Walley, Nicole M. ; Goldstein, David B. ; Stong, Nicholas ; Beggs, Alan H. ; Loscalzo, Joseph ; Macrae, Calum A. ; Silverman, Edwin K. ; Stoler, Joan M. ; Sweetser, David A. ; Maas, Richard L. ; Krier, Joel B. ; Rodan, Lance H. ; Walsh, Chris A. ; Cooper, Cynthia M. ; Pallais, Juan C. ; Donnell-Fink, Laurel A. ; Krieg, Elizabeth L. ; Lincoln, Sharyn A. ; Briere, Lauren C. ; Jacob, Howard J. ; Worthey, Elizabeth A. ; Lazar, Joe ; Strong, Kim A. ; Handley, Lori H. ; Newberry, J. Scott ; Bick, David P. ; Schroeder, Molly C. ; Brown, Donna M. ; Birch, Camille L. ; Levy, Shawn E. ; Boone, Braden E. ; Dorset, Dan C. ; Jones, Angela L. ; Manolio, Teri A. ; Mulvihill, John J. ; Wise, Anastasia L. ; Dayal, Jyoti G. ; Eckstein, David J. ; Krasnewich, Donna M. ; Loomis, Carson R. ; Mamounas, Laura A. ; Iglesias, Brenda ; Martin, Casey ; Koeller, David M. ; Metz, Thomas O. ; Ashley, Euan A. ; Fisher, Paul G. ; Bernstein, Jonathan A. ; Wheeler, Matt T. ; Zornio, Patricia A. ; Waggott, Daryl M. ; Dries, Annika M. ; Kohler, Jennefer N. ; Dipple, Katrina M. ; Nelson, Stan F. ; Palmer, Christina G.S. ; Vilain, Eric ; Allard, Patrick ; Dell Angelica, Esteban C. ; Lee, Hane ; Sinsheimer, Janet S. ; Papp, Jeanette C. ; Dorrani, Naghmeh ; Herzog, Matthew R. ; Barseghyan, Hayk ; Adams, David R. ; Adams, Christopher J. ; Burke, Elizabeth A. ; Chao, Katherine R. ; Davids, Mariska ; Draper, David D. ; Estwick, Tyra ; Frisby, Trevor S. ; Frost, Kate ; Gahl, William A. ; Gartner, Valerie ; Godfrey, Rena A. ; Goheen, Mitchell ; Golas, Gretchen A. ; Gordon, Mary G. ; Groden, Catherine A. ; Gropman, Andrea L. ; Hackbarth, Mary E. ; Hardee, Isabel ; Johnston, Jean M. ; Koehler, Alanna E. ; Latham, Lea ; Latour, Yvonne L. ; Lau, Chyau Yueh C. ; Lee, Paul R. ; Levy, Denise J. ; Liebendorder, Adam P. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Malicdan, May V. ; Markello, Thomas C. ; Mccarty, Alexandra J. ; Murphy, Jennifer L. ; Nehrebecky, Michele E. ; Novacic, Donna ; Pusey, Barbara N. ; Sadozai, Sarah ; Schaffer, Katherine E. ; Sharma, Prashant ; Soldatos, Ariane G. ; Thomas, Sara P. ; Tifft, Cynthia J. ; Tolman, Nathanial J. ; Toro, Camilo ; Valivullah, Zaheer M. ; Wahl, Colleen E. ; Warburton, Mike ; Weech, Alec A. ; Wolfe, Lynne A. ; Yu, Guoyun ; Hamid, Rizwan ; Newman, John H. ; Phillips, John A. ; Cogan, Joy D.

The American Journal of Human Genetics, 10/2016, Vol.99(4), pp.991-999 [Peer Reviewed Journal]

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17
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Ramoni, Rachel B. ; Mulvihill, John J. ; Adams, David R. ; Allard, Patrick ; Ashley, Euan A. ; Bernstein, Jonathan A. ; Gahl, William A. ; Hamid, Rizwan ; Loscalzo, Joseph ; Mccray, Alexa T. ; Shashi, Vandana ; Tifft, Cynthia J. ; Wise, Anastasia L. ; Adams, David R. ; Adams, Christopher J. ; Alejandro, Mercedes E. ; Allard, Patrick ; Ashley, Euan A. ; Azamian, Mashid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Barseghyan, Hayk ; Beggs, Alan H. ; Bellen, Hugo J. ; Bernick, David ; Bernstein, Jonathan A. ; Bican, Anna ; Bick, David P. ; Birch, Camille L. ; Boone, Braden E. ; Briere, Lauren C. ; Brown, Donna M. ; Brownstein, Catherine A. ; Brush, Matthew ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Chao, Katherine R. ; Clark, Gary D. ; Cogan, Joy D. ; Cooper, Cynthia M. ; Craigen, William J. ; Davids, Mariska ; Dayal, Jyoti G. ; Dell’angelica, Esteban C. ; Dhar, Shweta U. ; Dipple, Katrina M. ; Donnell-Fink, Laurel A. ; Dorrani, Naghmeh ; Dorset, Daniel C. ; Draper, David D. ; Dries, Annika M. ; Eastwood, Rachel ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Estwick, Tyra ; Fisher, Paul G. ; Frisby, Trevor S. ; Frost, Kate ; Gahl, William A. ; Gartner, Valerie ; Godfrey, Rena A. ; Goheen, Mitchell ; Golas, Gretchen A. ; Goldstein, David B. ; Gordon, Mary “gracie” G. ; Gould, Sarah E. ; Gourdine, Jean-Philippe F. ; Graham, Brett H. ; Groden, Catherine A. ; Gropman, Andrea L. ; Hackbarth, Mary E. ; Haendel, Melissa ; Hamid, Rizwan ; Hanchard, Neil A. ; Handley, Lori H. ; Hardee, Isabel ; Herzog, Matthew R. ; Holm, Ingrid A. ; Howerton, Ellen M. ; Iglesias, Brenda ; Jacob, Howard J. ; Jain, Mahim ; Jiang, Yong-Hui ; Johnston, Jean M. ; Jones, Angela L. ; Koehler, Alanna E. ; Koeller, David M. ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Krasnewich, Donna M. ; Krieg, Elizabeth L. ; Krier, Joel B. ; Kyle, Jennifer E. ; Lalani, Seema R. ; Latham, Lea ; Latour, Yvonne L. ; Lau, C. Christopher ; Lazar, Jozef ; Lee, Brendan H. ; Lee, Hane ; Lee, Paul R. ; Levy, Shawn E. ; Levy, Denise J. ; Lewis, Richard A. ; Liebendorder, Adam P. ; Lincoln, Sharyn A. ; Loomis, Carson R. ; Loscalzo, Joseph ; Maas, Richard L. ; Macnamara, Ellen F. ; Macrae, Calum A. ; Maduro, Valerie V. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Manolio, Teri A. ; Markello, Thomas C. ; Martin, Casey ; Mazur, Paul ; Mccarty, Alexandra J. ; Mcconkie-Rosell, Allyn ; Mccray, Alexa T. ; Metz, Thomas O. ; Might, Matthew ; Moretti, Paolo M. ; Mulvihill, John J. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Nelson, Stan F. ; Newberry, J. Scott ; Newman, John H. ; Nicholas, Sarah K. ; Novacic, Donna ; Orange, Jordan S. ; Pallais, J. Carl ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Pena, Loren D.M. ; Phillips, John A. ; Posey, Jennifer E. ; Postlethwait, John H. ; Potocki, Lorraine ; Pusey, Barbara N. ; Ramoni, Rachel B. ; Robertson, Amy K. ; Rodan, Lance H. ; Rosenfeld, Jill A. ; Sadozai, Sarah ; Schaffer, Katherine E. ; Schoch, Kelly ; Schroeder, Molly C. ; Scott, Daryl A. ; Sharma, Prashant ; Shashi, Vandana ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Soldatos, Ariane G. ; Spillmann, Rebecca C. ; Splinter, Kimberly ; Stoler, Joan M. ; Stong, Nicholas ; Strong, Kimberly A. ; Sullivan, Jennifer A. ; Sweetser, David A. ; Thomas, Sara P. ; Tifft, Cynthia J. ; Tolman, Nathanial J. ; Toro, Camilo ; Tran, Alyssa A. ; Valivullah, Zaheer M. ; Vilain, Eric ; Waggott, Daryl M. ; Wahl, Colleen E. ; Walley, Nicole M. ; Walsh, Chris A. ; Wangler, Michael F. ; Warburton, Mike ; Ward, Patricia A. ; Waters, Katrina M. ; Webb-Robertson, Bobbie-Jo M. ; Weech, Alec A. ; Westerfield, Monte ; Wheeler, Matthew T. ; Wise, Anastasia L. ; Wolfe, Lynne A. ; Worthey, Elizabeth A. ; Yamamoto, Shinya ; Yang, Yaping ; Yu, Guoyun ; Zornio, Patricia A.

The American Journal of Human Genetics, 02/2017, Vol.100(2), pp.185-192 [Peer Reviewed Journal]

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Discovery and optimization of novel 4-[(aminocarbonyl)amino]- N-[4-(2-aminoethyl)phenyl]benzenesulfonamide ghrelin receptor antagonists

Pasternak, Alexander ; Goble, Stephen D ; Dejesus, Reynalda K ; Hreniuk, Donna L ; Chung, Christine C ; Tota, Michael R ; Mazur, Paul ; Feighner, Scott D ; Howard, Andrew D ; Mills, Sander G ; Yang, Lihu

Bioorganic & Medicinal Chemistry Letters, 2009, Vol.19(21), pp.6237-6240 [Peer Reviewed Journal]

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Expression and characterization of protein geranylgeranyltransferase type I from the pathogenic yeast Candida albicans and identification of yeast selective enzyme inhibitors

Smalera, Isabella ; Williamson, Joanne M ; Baginsky, Walter ; Leiting, Barbara ; Mazur, Paul

Biochimica et Biophysica Acta (BBA)/Protein Structure and Molecular Enzymology, 2000, Vol.1480(1), pp.132-144 [Peer Reviewed Journal]

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Ornatins: potent glycoprotein IIb‐IIIa antagonists and platelet aggregation inhibitors from the leech Placobdella ornata

Mazur, Paul ; Henzel, William J. ; Seymour, Jana L. ; Lazarus, Robert A.

European Journal of Biochemistry, December 1991, Vol.202(3), pp.1079-1082 [Peer Reviewed Journal]

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Purification of geranylgeranyltransferase I from Candida albicans and cloning of the CaRAM2 and CaCDC43 genes encoding its subunits

Mazur, Paul ; Register, Elizabeth ; Bonfiglio, Cynthia A ; Yuan, Xiling ; Kurtz, Myra B ; Williamson, Joanne M ; Kelly, Rosemarie

Microbiology (Reading, England), May 1999, Vol.145 ( Pt 5), pp.1123-1135 [Peer Reviewed Journal]

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Novel glucocorticoids containing a 6,5-bicyclic core fused to a pyrazole ring: Synthesis, in vitro profile, molecular modeling studies, and in vivo experiments

Thompson, Christopher F ; Quraishi, Nazia ; Ali, Amjad ; Mosley, Ralph T ; Tata, James R ; Hammond, Milton L ; Balkovec, James M ; Einstein, Monica ; Ge, Lan ; Harris, Georgianna ; Kelly, Terri M ; Mazur, Paul ; Pandit, Shilpa ; Santoro, Joseph ; Sitlani, Ayesha ; Wang, Chuanlin ; Williamson, Joanne ; Miller, Douglas K ; Yamin, Ting-Ting D ; Thompson, Chris M

Bioorganic & Medicinal Chemistry Letters, 2007, Vol.17(12), pp.3354-3361 [Peer Reviewed Journal]

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Selective glucocorticoid receptor nonsteroidal ligands completely antagonize the dexamethasone mediated induction of enzymes involved in gluconeogenesis and glutamine metabolism

Einstein, Monica ; Greenlee, Mark ; Rouen, Greg ; Sitlani, Ayesha ; Santoro, Joe ; Wang, Chuanlin ; Pandit, Shilpa ; Mazur, Paul ; Smalera, Isabella ; Weaver, Alehna Pm ; Zeng, Ying Ying ; Ge, Lan ; Kelly, Theresa ; Paiva, Tony ; Geissler, Wayne ; Mosley, Ralph T ; Williamson, Joanne ; Ali, Amjad ; Balkovec, Jim ; Harris, Georgianna

Journal of Steroid Biochemistry and Molecular Biology, 2004, Vol.92(5), pp.345-356 [Peer Reviewed Journal]

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Novel ketal ligands for the glucocorticoid receptor: in vitro and in vivo activity

Smith, Cameron J ; Ali, Amjad ; Balkovec, James M ; Graham, Donald W ; Hammond, Milton L ; Patel, Gool F ; Rouen, Gregory P ; Smith, Scott K ; Tata, James R ; Einstein, Monica ; Ge, Lan ; Harris, Georgianna S ; Kelly, Theresa M ; Mazur, Paul ; Thompson, Chris M ; Wang, Chuanlin F ; Williamson, Joanne M ; Miller, Douglas K ; Pandit, Shilpa ; Santoro, Joseph C

Bioorganic & Medicinal Chemistry Letters, 2005, Vol.15(11), pp.2926-2931 [Peer Reviewed Journal]

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Novel heterocyclic glucocorticoids: in vitro profile and in vivo efficacy

Thompson, Christopher F ; Quraishi, Nazia ; Ali, Amjad ; Tata, James R ; Hammond, Milton L ; Balkovec, James M ; Einstein, Monica ; Ge, Lan ; Harris, Georgianna ; Kelly, Theresa M ; Mazur, Paul ; Pandit, Shilpa ; Santoro, Joseph ; Sitlani, Ayesha ; Wang, Chuanlin ; Williamson, Joanne ; Miller, Douglas K ; Yamin, Ting-Ting D ; Thompson, Chris M ; O’neill, Edward A

Bioorganic & Medicinal Chemistry Letters, 2005, Vol.15(8), pp.2163-2167 [Peer Reviewed Journal]

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Effects of Surface Roughness on the van der Waals Force between Macroscopic Bodies. II. Two Rough Surfaces
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Effects of Surface Roughness on the van der Waals Force between Macroscopic Bodies. II. Two Rough Surfaces

Mazur, Paul ; Mardudin, Alexei A California Univ Irvine Dept Of Physics (Corporate Author)

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Effects of Surface Roughness on the van der Waals Force between Macroscopic Bodies
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Effects of Surface Roughness on the van der Waals Force between Macroscopic Bodies

Maradudin, Alexei A ; Mazur, Paul California Univ Irvine Dept Of Physics (Corporate Author)

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28
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
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Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Cassini, Thomas A. ; Duncan, Laura ; Rives, Lynette C. ; Newman, John H. ; Phillips, John A. ; Koziura, Mary E. ; Brault, Jennifer ; Hamid, Rizwan ; Cogan, Joy ; Adams, Christopher ; Adams, David ; Alejandro, Mercedes ; Allard, Patrick ; Ashley, Euan ; Azamian, Mashid ; Bacino, Carlos ; Balasubramanyam, Ashok ; Barseghyan, Hayk ; Beggs, Alan ; Bellen, Hugo ; Bernstein, Jonathan ; Bick, David ; Birch, Camille ; Boone, Braden ; Bostwick, Bret ; Briere, Lauren ; Brown, Donna ; Brush, Matthew ; Burke, Elizabeth ; Burrage, Lindsay ; Chao, Katherine ; Chen, Shan ; Clark, Gary ; Cooper, Cynthia ; Craigen, William ; Davids, Mariska ; Dayal, Jyoti ; Dell'Angelica, Esteban ; Dhar, Shweta ; Dipple, Katrina ; Donnell‐Fink, Laurel ; Dorrani, Naghmeh ; Dorset, Daniel ; Draper, David ; Dries, Annika ; Eckstein, David ; Emrick, Lisa ; Eng, Christine ; Esteves, Cecilia ; Estwick, Tyra ; Fisher, Paul ; Frisby, Trevor ; Frost, Kate ; Gahl, William ; Gartner, Valerie ; Godfrey, Rena ; Goheen, Mitchell ; Golas, Gretchen ; Goldstein, David ; Gordon, Mary ; Gould, Sarah ; Gourdine, Jean‐Philippe ; Graham, Brett ; Groden, Catherine ; Gropman, Andrea ; Hackbarth, Mary ; Haendel, Melissa ; Hanchard, Neil ; Handley, Lori ; Hardee, Isabel ; Herzog, Matthew ; Holm, Ingrid ; Howerton, Ellen ; Jacob, Howard ; Jain, Mahim ; Jiang, Yong‐Hui ; Johnston, Jean ; Jones, Angela ; Koehler, Alanna ; Koeller, David ; Kohane, Isaac ; Kohler, Jennefer ; Krasnewich, Donna ; Krieg, Elizabeth ; Krier, Joel ; Kyle, Jennifer ; Lalani, Seema ; Latham, Lea ; Latour, Yvonne ; Lau, C. Christopher ; Lazar, Jozef ; Lee, Brendan ; Lee, Hane ; Lee, Paul ; Levy, Shawn ; Levy, Denise ; Lewis, Richard ; Liebendorfer, Adam ; Lincoln, Sharyn ; Loscalzo, Joseph ; Maas, Richard ; Macnamara, Ellen ; Macrae, Calum ; Maduro, Valerie ; Malicdan, May Christine ; Mamounas, Laura ; Manolio, Teri ; Markello, Thomas ; Mazur, Paul ; Mccarty, Alexandra ; Mcconkie‐Rosell, Allyn ; Mccray, Alexa ; Metz, Thomas ; Might, Matthew ; Moretti, Paolo ; Mulvihill, John ; Murphy, Jennifer ; Muzny, Donna ; Nehrebecky, Michele ; Nelson, Stan ; Scott Newberry, J ; Nicholas, Sarah ; Novacic, Donna ; Orange, Jordan ; Carl Pallais, J ; Palmer, Christina ; Papp, Jeanette ; Pena, Loren ; Posey, Jennifer ; Postlethwait, John ; Potocki, Lorraine ; Pusey, Barbara ; Ramoni, Rachel ; Rodan, Lance ; Rosenfeld, Jill ; Sadozai, Sarah ; Samson, Susan ; Schaffer, Katherine ; Schoch, Kelly ; Schroeder, Molly ; Scott, Daryl ; Sharma, Prashant ; Shashi, Vandana ; Silverman, Edwin ; Sinsheimer, Janet ; Soldatos, Ariane ; Spillmann, Rebecca ; Splinter, Kimberly ; Stoler, Joan ; Stong, Nicholas ; Strong, Kimberly ; Sullivan, Jennifer ; Sweetser, David ; Thomas, Sara ; Tifft, Cynthia ; Tolman, Nathanial ; Toro, Camilo ; Tran, Alyssa ; Urv, Tiina ; Valivullah, Zaheer ; Vilain, Eric ; Vogel, Tiphanie ; Waggott, Daryl ; Wahl, Colleen ; Walley, Nicole ; Walsh, Chris ; Wangler, Michael ; Ward, Patricia ; Waters, Katrina ; Webb‐Robertson, Bobbie‐Jo ; Weech, Alec ; Westerfield, Monte ; Wheeler, Matthew ; Wise, Anastasia ; Wolfe, Lynne ; Worthey, Elizabeth ; Yamamoto, Shinya ; Yang, Yaping ; Yu, Guoyun ; Zhang, Jing ; Zornio, Patricia

Molecular Genetics & Genomic Medicine, 04/25/2019, p.e00676 [Peer Reviewed Journal]

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Controlling the Buckling Behavior of Bilayered Systems

Mazur, Paul Antoine Benoit

2019

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