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1
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, Jessica X ; Buckingham, Kati J ; Jhangiani, Shalini N ; Boehm, Corinne ; Sobreira, Nara ; Smith, Joshua D ; Harrell, Tanya M ; McMillin, Margaret J ; Wiszniewski, Wojciech ; Gambin, Tomasz ; Coban Akdemir, Zeynep H ; Doheny, Kimberly ; Scott, Alan F ; Avramopoulos, Dimitri ; Chakravarti, Aravinda ; Hoover-Fong, Julie ; Mathews, Debra ; Witmer, P. Dane ; Ling, Hua ; Hetrick, Kurt ; Watkins, Lee ; Patterson, Karynne E ; Reinier, Frederic ; Blue, Elizabeth ; Muzny, Donna ; Kircher, Martin ; Bilguvar, Kaya ; López-Giráldez, Francesc ; Sutton, V. Reid ; Tabor, Holly K ; Leal, Suzanne M ; Gunel, Murat ; Mane, Shrikant ; Gibbs, Richard A ; Boerwinkle, Eric ; Hamosh, Ada ; Shendure, Jay ; Lupski, James R ; Lifton, Richard P ; Valle, David ; Nickerson, Deborah A ; Bamshad, Michael J

American journal of human genetics, 2015-08, Vol.97 (2), p.199-215 [Rivista Peer Reviewed]

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2
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers
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Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers

Akash Kumar ; Thomas A. White ; Alexandra P. MacKenzie ; Nigel Clegg ; Choli Lee ; Ruth F. Dumpit ; Ilsa Coleman ; Sarah B. Ng ; Stephen J. Salipante ; Mark J. Rieder ; Deborah A. Nickerson ; Eva Corey ; Paul H. Lange ; Colm Morrissey ; Robert L. Vessella ; Peter S. Nelson ; Jay Shendure

Proceedings of the National Academy of Sciences - PNAS, 2011-10-11, Vol.108 (41), p.17087-17092 [Rivista Peer Reviewed]

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3
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia
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Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

Horani, Amjad ; Druley, Todd E ; Zariwala, Maimoona A ; Patel, Anand C ; Levinson, Benjamin T ; Van Arendonk, Laura G ; Thornton, Katherine C ; Giacalone, Joe C ; Albee, Alison J ; Wilson, Kate S ; Turner, Emily H ; Nickerson, Deborah A ; Shendure, Jay ; Bayly, Philip V ; Leigh, Margaret W ; Knowles, Michael R ; Brody, Steven L ; Dutcher, Susan K ; Ferkol, Thomas W

American journal of human genetics, 2012-10-05, Vol.91 (4), p.685-693 [Rivista Peer Reviewed]

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4
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Green, Robert C ; Goddard, Katrina A.B ; Jarvik, Gail P ; Amendola, Laura M ; Appelbaum, Paul S ; Berg, Jonathan S ; Bernhardt, Barbara A ; Biesecker, Leslie G ; Biswas, Sawona ; Blout, Carrie L ; Bowling, Kevin M ; Brothers, Kyle B ; Burke, Wylie ; Caga-anan, Charlisse F ; Chinnaiyan, Arul M ; Chung, Wendy K ; Clayton, Ellen W ; Cooper, Gregory M ; East, Kelly ; Evans, James P ; Fullerton, Stephanie M ; Garraway, Levi A ; Garrett, Jeremy R ; Gray, Stacy W ; Henderson, Gail E ; Hindorff, Lucia A ; Holm, Ingrid A ; Lewis, Michelle Huckaby ; Hutter, Carolyn M ; Janne, Pasi A ; Joffe, Steven ; Kaufman, David ; Knoppers, Bartha M ; Koenig, Barbara A ; Krantz, Ian D ; Manolio, Teri A ; McCullough, Laurence ; McEwen, Jean ; McGuire, Amy ; Muzny, Donna ; Myers, Richard M ; Nickerson, Deborah A ; Ou, Jeffrey ; Parsons, Donald W ; Petersen, Gloria M ; Plon, Sharon E ; Rehm, Heidi L ; Roberts, J. Scott ; Robinson, Dan ; Salama, Joseph S ; Scollon, Sarah ; Sharp, Richard R ; Shirts, Brian ; Spinner, Nancy B ; Tabor, Holly K ; Tarczy-Hornoch, Peter ; Veenstra, David L ; Wagle, Nikhil ; Weck, Karen ; Wilfond, Benjamin S ; Wilhelmsen, Kirk ; Wolf, Susan M ; Wynn, Julia ; Yu, Joon-Ho ; Amaral, Michelle ; Amendola, Laura ; Aronson, Samuel J ; Arora, Shubhangi ; Azzariti, Danielle R ; Barsh, Greg S ; Bebin, E.M ; Biesecker, Barbara B ; Brown, Brian L ; Burt, Amber A ; Byers, Peter H ; Calikoglu, Muge G ; Carlson, Sara J ; Chahin, Nizar ; Christensen, Kurt D ; Chung, Wendy ; Cirino, Allison L ; Clayton, Ellen ; Conlin, Laura K ; Cooper, Greg M ; Crosslin, David R ; Davis, James V ; Davis, Kelly ; Deardorff, Matthew A ; Devkota, Batsal ; De Vries, Raymond ; Diamond, Pamela ; Dorschner, Michael O ; Dugan, Noreen P ; Dukhovny, Dmitry ; Dulik, Matthew C ; East, Kelly M ; Rivera-Munoz, Edgar A ; Evans, Barbara ; Everett, Jessica ; Exe, Nicole ; ...

American journal of human genetics, 2016-06, Vol.98 (6), p.1051-1066 [Rivista Peer Reviewed]

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5
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Kapferer-Seebacher, Ines ; Pepin, Melanie ; Werner, Roland ; Aitman, Timothy J ; Nordgren, Ann ; Stoiber, Heribert ; Thielens, Nicole ; Gaboriaud, Christine ; Amberger, Albert ; Schossig, Anna ; Gruber, Robert ; Giunta, Cecilia ; Bamshad, Michael ; Björck, Erik ; Chen, Christina ; Chitayat, David ; Dorschner, Michael ; Schmitt-Egenolf, Marcus ; Hale, Christopher J ; Hanna, David ; Hennies, Hans Christian ; Heiss-Kisielewsky, Irene ; Lindstrand, Anna ; Lundberg, Pernilla ; Mitchell, Anna L ; Nickerson, Deborah A ; Reinstein, Eyal ; Rohrbach, Marianne ; Romani, Nikolaus ; Schmuth, Matthias ; Silver, Rachel ; Taylan, Fulya ; Vandersteen, Anthony ; Vandrovcova, Jana ; Weerakkody, Ruwan ; Yang, Margaret ; Pope, F. Michael ; Aleck, Kirk ; Banki, Zoltan ; Dudas, Joszef ; Dumfahrt, Herbert ; Haririan, Hady ; Hartsfield, James K ; Kagen, Charles N ; Lindert, Uschi ; Meitinger, Thomas ; Posch, Wilfried ; Pritz, Christian ; Ross, David ; Schroer, Richard J ; Wick, Georg ; Wildin, Robert ; Wilflingseder, Doris ; Byers, Peter H ; Zschocke, Johannes

American journal of human genetics, 2016-11-03, Vol.99 (5), p.1005-1014 [Rivista Peer Reviewed]

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6
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Chong, Jessica X ; McMillin, Margaret J ; Shively, Kathryn M ; Beck, Anita E ; Marvin, Colby T ; Armenteros, Jose R ; Buckingham, Kati J ; Nkinsi, Naomi T ; Boyle, Evan A ; Berry, Margaret N ; Bocian, Maureen ; Foulds, Nicola ; Uzielli, Maria Luisa Giovannucci ; Haldeman-Englert, Chad ; Hennekam, Raoul C.M ; Kaplan, Paige ; Kline, Antonie D ; Mercer, Catherine L ; Nowaczyk, Malgorzata J.M ; Klein Wassink-Ruiter, Jolien S ; McPherson, Elizabeth W ; Moreno, Regina A ; Scheuerle, Angela E ; Shashi, Vandana ; Stevens, Cathy A ; Carey, John C ; Monteil, Arnaud ; Lory, Philippe ; Tabor, Holly K ; Smith, Joshua D ; Shendure, Jay ; Nickerson, Deborah A ; Bamshad, Michael J ; Bamshad, Michael J ; Abecasis, Gonçalo R ; Anderson, Peter ; Blue, Elizabeth Marchani ; Annable, Marcus ; Browning, Brian L ; Chen, Christina ; Chin, Jennifer ; Cooper, Gregory M ; Davis, Colleen P ; Frazar, Christopher ; Harrell, Tanya M ; He, Zongxiao ; Jain, Preti ; Jarvik, Gail P ; Jimenez, Guillaume ; Johanson, Eric ; Jun, Goo ; Kircher, Martin ; Kolar, Tom ; Krauter, Stephanie A ; Krumm, Niklas ; Leal, Suzanne M ; Luksic, Daniel ; McGee, Sean ; O’Reilly, Patrick ; Paeper, Bryan ; Patterson, Karynne ; Perez, Marcos ; Phillips, Sam W ; Pijoan, Jessica ; Poel, Christa ; Reinier, Frederic ; Robertson, Peggy D ; Santos-Cortez, Regie ; Shaffer, Tristan ; Shephard, Cindy ; Siegel, Deborah L ; Staples, Jeffrey C ; Tackett, Monica ; Underwood, Jason G ; Wegener, Marc ; Wang, Gao ; Wheeler, Marsha M ; Yi, Qian

American journal of human genetics, 2015-03, Vol.96 (3), p.462-473 [Rivista Peer Reviewed]

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7
MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms
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MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

Guo, Dong-chuan ; Gong, Limin ; Regalado, Ellen S ; Santos-Cortez, Regie L ; Zhao, Ren ; Cai, Bo ; Veeraraghavan, Sudha ; Prakash, Siddharth K ; Johnson, Ralph J ; Muilenburg, Ann ; Willing, Marcia ; Jondeau, Guillaume ; Boileau, Catherine ; Pannu, Hariyadarshi ; Moran, Rocio ; Debacker, Julie ; Bamshad, Michael J ; Shendure, Jay ; Nickerson, Deborah A ; Leal, Suzanne M ; Raman, C.S ; Swindell, Eric C ; Milewicz, Dianna M

American journal of human genetics, 2015-01-08, Vol.96 (1), p.170-177 [Rivista Peer Reviewed]

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8
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

McMillin, Margaret J ; Beck, Anita E ; Chong, Jessica X ; Shively, Kathryn M ; Buckingham, Kati J ; Gildersleeve, Heidi I.S ; Aracena, Mariana I ; Aylsworth, Arthur S ; Bitoun, Pierre ; Carey, John C ; Clericuzio, Carol L ; Crow, Yanick J ; Curry, Cynthia J ; Devriendt, Koenraad ; Everman, David B ; Fryer, Alan ; Gibson, Kate ; Giovannucci Uzielli, Maria Luisa ; Graham, John M ; Hall, Judith G ; Hecht, Jacqueline T ; Heidenreich, Randall A ; Hurst, Jane A ; Irani, Sarosh ; Krapels, Ingrid P.C ; Leroy, Jules G ; Mowat, David ; Plant, Gordon T ; Robertson, Stephen P ; Schorry, Elizabeth K ; Scott, Richard H ; Seaver, Laurie H ; Sherr, Elliott ; Splitt, Miranda ; Stewart, Helen ; Stumpel, Constance ; Temel, Sehime G ; Weaver, David D ; Whiteford, Margo ; Williams, Marc S ; Tabor, Holly K ; Smith, Joshua D ; Shendure, Jay ; Nickerson, Deborah A ; Bamshad, Michael J

American journal of human genetics, 2014-05-01, Vol.94 (5), p.734-744 [Rivista Peer Reviewed]

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9
Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data
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Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

He, Zongxiao ; O’Roak, Brian J ; Smith, Joshua D ; Wang, Gao ; Hooker, Stanley ; Santos-Cortez, Regie Lyn P ; Li, Biao ; Kan, Mengyuan ; Krumm, Nik ; Nickerson, Deborah A ; Shendure, Jay ; Eichler, Evan E ; Leal, Suzanne M

American journal of human genetics, 2014-01, Vol.94 (1), p.33-46 [Rivista Peer Reviewed]

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10
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
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Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

Santos-Cortez, Regie Lyn P ; Lee, Kwanghyuk ; Azeem, Zahid ; Antonellis, Patrick J ; Pollock, Lana M ; Khan, Saadullah ; Irfanullah ; Andrade-Elizondo, Paula B ; Chiu, Ilene ; Adams, Mark D ; Basit, Sulman ; Smith, Joshua D ; Nickerson, Deborah A ; McDermott, Brian M ; Ahmad, Wasim ; Leal, Suzanne M

American journal of human genetics, 2013-07, Vol.93 (1), p.132-140 [Rivista Peer Reviewed]

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