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1
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
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Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

Freeze, Hudson H ; Chong, Jessica X ; Bamshad, Michael J ; Ng, Bobby G

American journal of human genetics, 2014-02, Vol.94 (2), p.161-175 [Rivista Peer Reviewed]

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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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3
Characteristics of Neutral and Deleterious Protein-Coding Variation among Individuals and Populations
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Characteristics of Neutral and Deleterious Protein-Coding Variation among Individuals and Populations

Fu, Wenqing ; Gittelman, Rachel M ; Bamshad, Michael J ; Akey, Joshua M

American journal of human genetics, 2014-10, Vol.95 (4), p.421-436 [Rivista Peer Reviewed]

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4
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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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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6
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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7
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
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Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Knowles, Michael R ; Leigh, Margaret W ; Ostrowski, Lawrence E ; Huang, Lu ; Carson, Johnny L ; Hazucha, Milan J ; Yin, Weining ; Berg, Jonathan S ; Davis, Stephanie D ; Dell, Sharon D ; Ferkol, Thomas W ; Rosenfeld, Margaret ; Sagel, Scott D ; Milla, Carlos E ; Olivier, Kenneth N ; Turner, Emily H ; Lewis, Alexandra P ; Bamshad, Michael J ; Nickerson, Deborah A ; Shendure, Jay ; Zariwala, Maimoona A

American journal of human genetics, 2013-01, Vol.92 (1), p.99-106 [Rivista Peer Reviewed]

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8
Estimates of Continental Ancestry Vary Widely among Individuals with the Same mtDNA Haplogroup
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Estimates of Continental Ancestry Vary Widely among Individuals with the Same mtDNA Haplogroup

Emery, Leslie S ; Magnaye, Kevin M ; Bigham, Abigail W ; Akey, Joshua M ; Bamshad, Michael J

American journal of human genetics, 2015-02-05, Vol.96 (2), p.183-193 [Rivista Peer Reviewed]

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9
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Chong, Jessica X ; Burrage, Lindsay C ; Beck, Anita E ; Marvin, Colby T ; McMillin, Margaret J ; Shively, Kathryn M ; Harrell, Tanya M ; Buckingham, Kati J ; Bacino, Carlos A ; Jain, Mahim ; Alanay, Yasemin ; Berry, Susan A ; Carey, John C ; Gibbs, Richard A ; Lee, Brendan H ; Krakow, Deborah ; Shendure, Jay ; Nickerson, Deborah A ; Bamshad, Michael J ; Shendure, Jay ; Nickerson, Deborah A ; Abecasis, Gonçalo R ; Anderson, Peter ; Blue, Elizabeth Marchani ; Annable, Marcus ; Browning, Brian L ; Buckingham, Kati J ; Chen, Christina ; Chin, Jennifer ; Chong, Jessica X ; 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 ; Marvin, Colby T ; McMillin, Margaret J ; 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 ; Shively, Kathryn M ; Siegel, Deborah L ; Smith, Joshua D ; Staples, Jeffrey C ; Tabor, Holly K ; Tackett, Monica ; Underwood, Jason G ; Wegener, Marc ; Wang, Gao ; Wheeler, Marsha M ; Yi, Qian ; Bamshad, Michael J

American journal of human genetics, 2015-05-07, Vol.96 (5), p.841-849 [Rivista Peer Reviewed]

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10
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

Turner, Tychele N ; Hormozdiari, Fereydoun ; Duyzend, Michael H ; McClymont, Sarah A ; Hook, Paul W ; Iossifov, Ivan ; Raja, Archana ; Baker, Carl ; Hoekzema, Kendra ; Stessman, Holly A ; Zody, Michael C ; Nelson, Bradley J ; Huddleston, John ; Sandstrom, Richard ; Smith, Joshua D ; Hanna, David ; Swanson, James M ; Faustman, Elaine M ; Bamshad, Michael J ; Stamatoyannopoulos, John ; Nickerson, Deborah A ; McCallion, Andrew S ; Darnell, Robert ; Eichler, Evan E

American journal of human genetics, 2016-01, Vol.98 (1), p.58-74 [Rivista Peer Reviewed]

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