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1
Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies
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Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies

Fang, Huaying ; Hui, Qin ; Lynch, Julie ; Honerlaw, Jacqueline ; Assimes, Themistocles L. ; Huang, Jie ; Vujkovic, Marijana ; Damrauer, Scott M. ; Pyarajan, Saiju ; Gaziano, J. Michael ; DuVall, Scott L. ; O’Donnell, Christopher J. ; Cho, Kelly ; Chang, Kyong-Mi ; Wilson, Peter W.F. ; Tsao, Philip S. ; Gaziano, J. Michael ; Ramoni, Rachel ; Breeling, Jim ; Chang, Kyong-Mi ; Huang, Grant ; Muralidhar, Sumitra ; O’Donnell, Christopher J. ; Tsao, Philip S. ; Moser, Jennifer ; Whitbourne, Stacey B. ; Brewer, Jessica V. ; Warren, Stuart ; Argyres, Dean P. ; Stephens, Brady ; Brophy, Mary T. ; Humphries, Donald E. ; Do, Nhan ; Shayan, Shahpoor ; Nguyen, Xuan-Mai T. ; Pyarajan, Saiju ; Cho, Kelly ; Hauser, Elizabeth ; Sun, Yan ; Zhao, Hongyu ; Wilson, Peter ; McArdle, Rachel ; Dellitalia, Louis ; Harley, John ; Whittle, Jeffrey ; Beckham, Jean ; Wells, John ; Gutierrez, Salvador ; Gibson, Gretchen ; Kaminsky, Laurence ; Villareal, Gerardo ; Kinlay, Scott ; Xu, Junzhe ; Hamner, Mark ; Haddock, Kathlyn Sue ; Bhushan, Sujata ; Iruvanti, Pran ; Godschalk, Michael ; Ballas, Zuhair ; Buford, Malcolm ; Mastorides, Stephen ; Klein, Jon ; Ratcliffe, Nora ; Florez, Hermes ; Swann, Alan ; Murdoch, Maureen ; Sriram, Peruvemba ; Yeh, Shing Shing ; Washburn, Ronald ; Jhala, Darshana ; Aguayo, Samuel ; Cohen, David ; Sharma, Satish ; Callaghan, John ; Oursler, Kris Ann ; Whooley, Mary ; Ahuja, Sunil ; Gutierrez, Amparo ; Schifman, Ronald ; Greco, Jennifer ; Rauchman, Michael ; Servatius, Richard ; Oehlert, Mary ; Wallbom, Agnes ; Fernando, Ronald ; Stapley, Todd ; Sherman, Scott ; Anderson, Gwenevere ; Sonel, Elif ; Boyko, Edward ; Meyer, Laurence ; Gupta, Samir ; Fayad, Joseph ; Hung, Adriana ; Lichy, Jack ; Hurley, Robin ; Robey, Brooks ; Striker, Robert ; Sun, Yan V. ; Tang, Hua

American journal of human genetics, 2019-10, Vol.105 (4), p.763-772 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Unraveling Multiple MHC Gene Associations with Systemic Lupus Erythematosus: Model Choice Indicates a Role for HLA Alleles and Non-HLA Genes in Europeans
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Unraveling Multiple MHC Gene Associations with Systemic Lupus Erythematosus: Model Choice Indicates a Role for HLA Alleles and Non-HLA Genes in Europeans

MORRIS, David L ; TAYLOR, Kimberly E ; PONS-ESTEL, Bernardo A ; GREGERSEN, Peter K ; HARLEY, John B ; HAUSER, Stephen L ; HOM, Geoffrey ; LANGEFELD, Carl D ; NOBLE, Janelle A ; RIOUX, John D ; SELDIN, Michael F ; CRISWELL, Lindsey A ; FERNANDO, Michelle M. A ; VYSE, Timothy J ; NITITHAM, Joanne ; ALARCON-RIQUELME, Marta E ; BARCELLOS, Lisa F ; BEHRENS, Timothy W ; COTSAPAS, Chris ; GAFFNEY, Patrick M ; GRAHAM, Robert R

American journal of human genetics, 2012-11, Vol.91 (5), p.778-793 [Periódico revisado por pares]

Cambridge, MA: Cell Press

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3
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
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Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Berg, Jonathan S. ; Brothers, Kyle ; Clayton, Ellen W. ; Chung, Wendy ; Evans, Barbara J. ; Evans, James P. ; Fullerton, Stephanie M. ; Gallego, Carlos J. ; Garrison, Nanibaa’ A. ; Gray, Stacy W. ; Holm, Ingrid A. ; Kullo, Iftikhar J. ; Lehmann, Lisa Soleymani ; McCarty, Cathy ; Prows, Cynthia A. ; Rehm, Heidi L. ; Sharp, Richard R. ; Salama, Joseph ; Sanderson, Saskia ; Wolf, Wendy A. ; Myers, Melanie ; Vinks, Sander ; Crosslin, David ; Leppig, Kathy ; Wicklund, Cathy ; Chute, Christopher ; Lynch, John ; De Andrade, Mariza ; Heit, John ; Brilliant, Murray ; Kitchner, Terrie ; Ritchie, Marylyn ; Persell, Stephen ; Rasmussen-Torvik, Laura ; McGregor, Tracy ; Antommaria, Armand ; Chiavacci, Rosetta ; Ledbetter, David ; Williams, Janet ; Hartzler, Andrea ; Vitek, Carolyn R. Rohrer ; Frost, Norm ; Ferryman, Kadija ; Horowitz, Carol ; Zinberg, Randi ; Pan, Vivian ; Long, Rochelle ; Ramos, Erin ; Odgis, Jackie ; Wise, Anastasia ; Hull, Sara ; Gitlin, Jonathan ; Green, Robert ; Metterville, Danielle ; McGuire, Amy ; Kong, Sek Won ; Trinidad, Sue ; Veenstra, David ; Roche, Myra ; Skinner, Debra ; Raspberry, Kelly ; O’Daniel, Julianne ; Parsons, Will ; Eng, Christine ; Hilsenbeck, Susan ; Karavite, Dean ; Conlin, Laura ; Spinner, Nancy ; Krantz, Ian ; Falk, Marni ; Santani, Avni ; Dechene, Elizabeth ; Bernhardt, Barbara ; Schuetze, Scott ; Everett, Jessica ; Gornick, Michele Caroline ; Wilfond, Ben ; Tabor, Holly ; Lemke, Amy A. ; Goddard, Katrina ; East, Kelly ; Barsh, Greg ; Koenig, Barbara ; Van Allen, Eliezer ; Garber, Judy ; Zawati, Ma’n ; Lewis, Michelle ; Savage, Sarah ; Smith, Maureen ; Roychowdhury, Sameek ; Anan, Charlisse Caga ; Hindorff, Lucia ; Hutter, Carolyn ; King, Rosalind ; Li, Rongling ; Lockhart, Nicole ; McEwen, Jean ; Scholes, Derek ; Sun, Kathie ; Burke, Wylie

American journal of human genetics, 2014-06, Vol.94 (6), p.818-826 [Periódico revisado por pares]

United States: Elsevier Inc

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4
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Helbig, Katherine L. ; Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Uysal, Betül ; Gandini, Maria A. ; Huang, Sun ; Keren, Boris ; Mignot, Cyril ; Billette de Villemeur, Thierry ; Nava, Caroline ; Valence, Stéphanie ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kamsteeg, Erik-Jan ; Koolen, David A. ; Gunning, Boudewijn ; Schelhaas, H. Jurgen ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Lindstrom, Kristin ; Jin, Sheng Chih ; Zeng, Xue ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Zhu, Changlian ; Boysen, Katja ; Vairo, Filippo ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Payne, Eric T. ; Cousin, Margot A. ; Kruisselbrink, Teresa M. ; Wick, Myra J. ; Baker, Joshua ; Smith, Nicholas ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Corbett, Mark A. ; Goldmann, Eva ; Kichula, Elizabeth ; Segal, Eric ; Jackson, Kelly E. ; Asamoah, Alexander ; McCarrier, Julie ; Botto, Lorenzo D. ; Tvrdik, Tatiana ; Cascino, Gregory D. ; Klingerman, Sherry ; Neumann, Catherine ; Nolan, Melinda A. ; Snell, Russell G. ; Lehnert, Klaus ; Sadleir, Lynette G. ; Kvarnung, Malin ; Guerrini, Renzo ; Friez, Michael J. ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; El Achkar, Christelle M. ; Smith, Lacey A. ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Blyth, Moira ; Kerr, Bronwyn ; Ruiz, Karla ; Urquhart, Jill ; Banka, Siddharth ; Scheffer, Ingrid E. ; Zamponi, Gerald W. ; Mefford, Heather C.

American journal of human genetics, 2018-11, Vol.103 (5), p.666-678 [Periódico revisado por pares]

United States: Elsevier Inc

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5
A Rare Functional Noncoding Variant at the GWAS-Implicated MIR137/MIR2682 Locus Might Confer Risk to Schizophrenia and Bipolar Disorder
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A Rare Functional Noncoding Variant at the GWAS-Implicated MIR137/MIR2682 Locus Might Confer Risk to Schizophrenia and Bipolar Disorder

Duan, Jubao ; Shi, Jianxin ; Fiorentino, Alessia ; Leites, Catherine ; Chen, Xiangning ; Moy, Winton ; Chen, Jingchun ; Alexandrov, Boian S. ; Usheva, Anny ; He, Deli ; Freda, Jessica ; O’Brien, Niamh L. ; Gejman, Pablo V. ; Sanders, Alan R. ; Duan, Jubao ; Levinson, Douglas F. ; Shi, Jianxin ; Buccola, Nancy G. ; Mowry, Bryan J. ; Freedman, Robert ; Olincy, Ann ; Amin, Farooq ; Black, Donald W. ; Silverman, Jeremy M. ; Byerley, William F. ; Svrakic, Dragan M. ; Cloninger, C. Robert ; Pato, Michele T. ; Sobell, Janet L. ; Medeiros, Helena ; Abbott, Colony ; Skar, Brooke ; Buckley, Peter F. ; Bromet, Evelyn J. ; Escamilla, Michael A. ; Fanous, Ayman H. ; Lehrer, Douglas S. ; Macciardi, Fabio ; Malaspina, Dolores ; McCarroll, Steve A. ; Marder, Stephen R. ; Moran, Jennifer ; Morley, Christopher P. ; Nicolini, Humberto ; Perkins, Diana O. ; Purcell, Shaun M. ; Rapaport, Mark H. ; Sklar, Pamela ; Smoller, Jordan W. ; Knowles, James A. ; Pato, Carlos N. ; McQuillin, Andrew ; Sanders, Alan R. ; Gershon, Elliot S. ; DeLisi, Lynn E. ; Bishop, Alan R. ; Gurling, Hugh M.D. ; Pato, Michele T. ; Levinson, Douglas F. ; Kendler, Kenneth S. ; Pato, Carlos N. ; Gejman, Pablo V.

American journal of human genetics, 2014-12, Vol.95 (6), p.744-753 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Zhao, Yingjie ; Diacou, Alexander ; Johnston, H. Richard ; Musfee, Fadi I. ; McDonald-McGinn, Donna M. ; McGinn, Daniel ; Crowley, T. Blaine ; Repetto, Gabriela M. ; Swillen, Ann ; Breckpot, Jeroen ; Vermeesch, Joris R. ; Kates, Wendy R. ; Digilio, M. Cristina ; Unolt, Marta ; Marino, Bruno ; Pontillo, Maria ; Armando, Marco ; Di Fabio, Fabio ; Vicari, Stefano ; van den Bree, Marianne ; Moss, Hayley ; Owen, Michael J. ; Murphy, Kieran C. ; Murphy, Clodagh M. ; Murphy, Declan ; Schoch, Kelly ; Shashi, Vandana ; Tassone, Flora ; Simon, Tony J. ; Shprintzen, Robert J. ; Campbell, Linda ; Philip, Nicole ; Heine-Suñer, Damian ; García-Miñaúr, Sixto ; Fernández, Luis ; Antonarakis, Stylianos E. ; Biondi, Massimo ; Boot, Erik ; Breetvelt, Elemi ; Busa, Tiffany ; Butcher, Nancy ; Buzzanca, Antonino ; Carmel, Miri ; Cleynen, Isabelle ; Cutler, David ; Dallapiccola, Bruno ; de la Fuente Sanches, María Angeles ; Epstein, Michael P. ; Evers, Rens ; Fernandez, Luis ; Fritsch, Rosemarie ; Algas, Fernando García ; Guo, Tingwei ; Gur, Raquel ; Hestand, Matthew S. ; Heung, Tracy ; Hooper, Stephen ; Jin, Andrea ; Kushan-Wells, Leila ; Laorden-Nieto, Alejandra Teresa ; Lattanzi, Guido ; Marshall, Christian ; McCabe, Kathryn ; Michaelovsky, Elena ; Ornstein, Claudia ; Silversides, Candice ; Tran, Oanh ; van Duin, Esther D.A. ; Vergaelen, Elfi ; Warren, Steve T. ; Weinberger, Ronnie ; Weizman, Abraham ; Zhang, Zhengdong ; Zwick, Michael ; Bearden, Carrie E. ; Vingerhoets, Claudia ; van Amelsvoort, Therese ; Eliez, Stephan ; Schneider, Maude ; Vorstman, Jacob A.S. ; Gothelf, Doron ; Zackai, Elaine ; Agopian, A.J. ; Gur, Raquel E. ; Bassett, Anne S. ; Emanuel, Beverly S. ; Goldmuntz, Elizabeth ; Mitchell, Laura E. ; Wang, Tao ; Morrow, Bernice E.

American journal of human genetics, 2020-01, Vol.106 (1), p.26-40 [Periódico revisado por pares]

United States: Elsevier Inc

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7
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
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A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Vaglio, Augusto ; Mackie, Sarah L. ; Hernández-Rodríguez, José ; Monach, Paul A. ; Castañeda, Santos ; Solans, Roser ; Morado, Inmaculada C. ; Narváez, Javier ; Pease, Colin T. ; Dasgupta, Bhaskar ; Watts, Richard ; Khalidi, Nader ; Ytterberg, Steven ; Boiardi, Luigi ; Beretta, Lorenzo ; Govoni, Marcello ; Bonatti, Francesco ; Witte, Torsten ; Schönau, Verena ; Papo, Thomas ; Haroche, Julien ; Mahr, Alfred ; Molberg, Øyvind ; Voskuyl, Alexandre ; Brouwer, Elisabeth ; Daikeler, Thomas ; Berger, Christoph T. ; Molloy, Eamonn S. ; Blockmans, Daniel ; Lie, Benedicte A. ; Mclaren, Paul ; Wijmenga, Cisca ; Allanore, Yannick ; Koeleman, Bobby P.C. ; Callejas, José Luis ; Caminal-Montero, Luis ; Corbera-Bellalta, Marc ; de Miguel, Eugenio ; López, J. Bernardino Díaz ; Gómez-Vaquero, Carmen ; Guijarro-Rojas, Mercedes ; Hidalgo-Conde, Ana ; Marí-Alfonso, Begoña ; Berriochoa, Agustín Martínez ; Zapico, Aleida Martínez ; Miranda-Filloy, José A. ; Monfort, Jordi ; Ortego-Centeno, Norberto ; Pérez-Conesa, Mercedes ; Prieto-González, Sergio ; Fernández, Raquel Ríos ; Sánchez-Martín, Julio ; Sopeña, Bernardo ; Unzurrunzaga, Ainhoa ; Gough, Andrew ; Isaacs, John D. ; McHugh, Neil ; Hordon, Lesley ; Kamath, Sanjeet ; Patel, Yusuf ; Yee, Cee-Seng ; Nandi, Pradip ; Nandagudi, Anupama ; Jarrett, Stephen ; Levy, Sarah ; Mollan, Susan ; Salih, Abdel ; Wordsworth, Oliver ; Sanders, Emma ; Gill, Anne ; Carr, Lisa ; Routledge, Christine ; Culfear, Karen ; James, Lynne ; Spimpolo, Jenny ; Kempa, Andy ; Masqood, Zahira ; Wood, Rose ; Rashid, Lubna Haroon ; Robinson, James I. ; Morgan, Mike ; Sorensen, Louise ; Taylor, John ; Carette, Simon ; Chung, Sharon ; Cuthbertson, David ; Forbess, Lindsy J. ; Gewurz-Singer, Ora ; Hoffman, Gary S. ; Maksimowicz-McKinnon, Kathleen M. ; Pagnoux, Christian ; Seo, Philip ; Specks, Ulrich ; Spiera, Robert F. ; Sreih, Antoine ; Barrett, Jennifer H. ; Merkel, Peter A. ; Morgan, Ann W. ; González-Gay, Miguel A. ; Martín, Javier

American journal of human genetics, 2017-01, Vol.100 (1), p.64-74 [Periódico revisado por pares]

United States: Elsevier Inc

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8
A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies
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A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

Colombel, Jean-Frederick ; Hugot, Jean-Pierre ; Massey, Dunecan ; Montgomery, Grant W. ; Oikonomou, Ioannis ; Peeters, Harald ; Proctor, Deborah D. ; Seibold, Frank ; Törkvist, Leif ; Andrews, Jane M. ; Bampton, Peter A. ; Florin, Timothy H. ; Krishnaprasad, Krupa ; Radford-Smith, Graham ; Simms, Lisa A. ; Laukens, Debby ; Deslandres, Colette ; Duerr, Richard H. ; Goyette, Philippe ; Haritunians, Talin ; Lahaie, Raymond G. ; Ng, Sok Meng ; Rioux, John D. ; Aerts, Jan ; Attwood, Anthony ; Ball, Stephen G. ; Brown, Morris J. ; Burton, John ; Byrnes, Jake ; Cardin, Niall ; Clee, Chris M. ; Coffey, Alison J. ; Dominiczak, Anna F. ; Evans, David M. ; Farmer, Anne ; Ferrier, Nicol ; Flynn, Edward ; Franklyn, Jayne A. ; Frayling, Timothy M. ; Freathy, Rachel M. ; Gibbs, Polly ; Gray, Emma ; Howard, Philip ; Hughes, Debbie ; Hunt, Sarah ; Jolley, Jennifer D. ; Jones, Lisa A. ; Kirov, George ; Maller, Julian ; Mansfield, John ; McGuffin, Peter ; McLay, Kirsten E. ; Mentzer, Alex ; Munroe, Patricia B. ; Newman, William ; Palotie, Aarno ; Plagnol, Vincent ; Prescott, Natalie J. ; Quail, Michael A. ; Reid, David M. ; Renwick, Anthony ; Russell, Ellie ; St Clair, David ; Scott, Richard ; Somaskantharajah, Elilan ; Steer, Sophia ; Symmons, Deborah P.M. ; Tobin, Martin D. ; Wain, Louise V. ; Walker, Mark ; Wallace, Chris ; Weedon, Michael N. ; Wilson, Anthony G. ; Yau, Chris ; Young, Allan H. ; Brown, Matthew A. ; Gough, Stephen C.L. ; Satsangi, Jack ; Ouwehand, Willem H. ; Parkes, Miles ; Rahman, Nazneen ; Samani, Nilesh J. ; Kwiatkowski, Dominic P. ; Donnelly, Peter ; Bramon, Elvira ; Casas, Juan P. ; Corvin, Aiden ; Jankowski, Janusz ; Markus, Hugh S. ; Palmer, Colin N.A. ; Plomin, Robert ; Viswanathan, Ananth C. ; Spencer, Chris C.A. ; Blackburn, Hannah ; Gillman, Matthew ; McCann, Owen T. ; Waller, Matthew ; Weston, Paul ; Whittaker, Pamela ; Roeder, Kathryn

American journal of human genetics, 2016-05, Vol.98 (5), p.857-868 [Periódico revisado por pares]

United States: Elsevier Inc

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9
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Myers, Candace T. ; Schwarz, Niklas ; Gandini, Maria A. ; Keren, Boris ; Mignot, Cyril ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Héron, Delphine ; Nava, Caroline ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kibaek, Maria ; Kamsteeg, Erik-Jan ; Schelhaas, H. Jurgen ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Padilla-Lopez, Sergio ; Lindstrom, Kristin ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Boysen, Katja ; Vairo, Filippo ; Lanpher, Brendan C. ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Cousin, Margot A. ; Baker, Joshua ; Haan, Eric ; Smith, Nicholas ; Davis, Erica E. ; Katsanis, Nicholas ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Ross, Sherry ; Smith, Edward ; Wiener, John ; Corbett, Mark A. ; MacLennan, Alastair H. ; Biskup, Saskia ; Rodan, Lance H. ; Segal, Eric ; Dimmock, David ; McCarrier, Julie ; Botto, Lorenzo D. ; Filloux, Francis ; Klingerman, Sherry ; Neumann, Catherine ; Wang, Raymond ; Jacobsen, Jessie C. ; Snell, Russell G. ; Lehnert, Klaus ; Anderlid, Britt-Marie ; Kvarnung, Malin ; Guerrini, Renzo ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; Smith, Lacey A. ; Rotenberg, Alexander ; Poduri, Annapurna ; Sanchis-Juan, Alba ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Raymond, F. Lucy ; Blyth, Moira ; Kerr, Bronwyn ; Urquhart, Jill ; Hughes, Imelda ; Banka, Siddharth ; Hedrich, Ulrike B.S. ; Scheffer, Ingrid E. ; Zamponi, Gerald W. ; Lerche, Holger ; Mefford, Heather C.

American journal of human genetics, 2019-03, Vol.104 (3), p.562-562 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Epidermolysis bullosa simplex : a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function
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Epidermolysis bullosa simplex : a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function

STEPHENS, K ; ZLOTOGORSKI, A ; SMITH, L ; EHRLICH, P ; WIJSMAN, E ; LIVINGSTON, R. J ; SYBERT, V. P

American journal of human genetics, 1995-03, Vol.56 (3), p.577-585 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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