skip to main content
Lingue:

Risutati 1 - 10 di 2.342  per Ricerca globale

Risultati 1 2 3 4 5 next page
Mostra solo
Result Number Material Type Add to My Shelf Action Record Details and Options
1
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

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]

Fulltext disponibile

2
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

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]

Fulltext disponibile

3
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

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]

Fulltext disponibile

4
Exome Sequencing Implicates an Increased Burden of Rare Potassium Channel Variants in the Risk of Drug-Induced Long QT Interval Syndrome
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Exome Sequencing Implicates an Increased Burden of Rare Potassium Channel Variants in the Risk of Drug-Induced Long QT Interval Syndrome

Weeke, Peter, MD ; Mosley, Jonathan D., MD, PhD ; Hanna, David, BS ; Delaney, Jessica T., MD ; Shaffer, Christian, BS ; Wells, Quinn S., MD ; Van Driest, Sara, MD, PhD ; Karnes, Jason H., PharmD, PhD ; Ingram, Christie, BS ; Guo, Yan, PhD ; Shyr, Yu, PhD ; Norris, Kris, RN ; Kannankeril, Prince J., MD ; Ramirez, Andrea H., MD ; Smith, Joshua D., BS ; Mardis, Elaine R., PhD ; Nickerson, Deborah, PhD ; George, Alfred L., MD ; Roden, Dan M., MD

Journal of the American College of Cardiology, 2014, Vol.63 (14), p.1430-1437 [Rivista Peer Reviewed]

Fulltext disponibile

5
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

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]

Fulltext disponibile

6
Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

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]

Fulltext disponibile

7
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

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]

Fulltext disponibile

8
Plastron Respiration Using Commercial Fabrics
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Plastron Respiration Using Commercial Fabrics

Atherton, Shaun ; Brennan, Joseph C ; Morris, Robert H ; Smith, Joshua D E ; Hamlett, Christopher A E ; McHale, Glen ; Shirtcliffe, Neil J ; Newton, Michael I

Materials, 2014-01-16, Vol.7 (1), p.484-495 [Rivista Peer Reviewed]

Fulltext disponibile

9
The contribution of de novo coding mutations to autism spectrum disorder
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

The contribution of de novo coding mutations to autism spectrum disorder

Iossifov, Ivan ; O’Roak, Brian J ; Sanders, Stephan J ; Ronemus, Michael ; Krumm, Niklas ; Levy, Dan ; Stessman, Holly A ; Witherspoon, Kali T ; Vives, Laura ; Patterson, Karynne E ; Smith, Joshua D ; Paeper, Bryan ; Nickerson, Deborah A ; Dea, Jeanselle ; Dong, Shan ; Gonzalez, Luis E ; Mandell, Jeffrey D ; Mane, Shrikant M ; Murtha, Michael T ; Sullivan, Catherine A ; Walker, Michael F ; Waqar, Zainulabedin ; Wei, Liping ; Willsey, A. Jeremy ; Yamrom, Boris ; Lee, Yoon-ha ; Grabowska, Ewa ; Dalkic, Ertugrul ; Wang, Zihua ; Marks, Steven ; Andrews, Peter ; Leotta, Anthony ; Kendall, Jude ; Hakker, Inessa ; Rosenbaum, Julie ; Ma, Beicong ; Rodgers, Linda ; Troge, Jennifer ; Narzisi, Giuseppe ; Yoon, Seungtai ; Schatz, Michael C ; Ye, Kenny ; McCombie, W. Richard ; Shendure, Jay ; Eichler, Evan E ; State, Matthew W ; Wigler, Michael

Nature (London), 2014-10-29, Vol.515 (7526), p.216-221 [Rivista Peer Reviewed]

Fulltext disponibile

10
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Pyott, Shawna M ; Tran, Thao T ; Leistritz, Dru F ; Pepin, Melanie G ; Mendelsohn, Nancy J ; Temme, Renee T ; Fernandez, Bridget A ; Elsayed, Solaf M ; Elsobky, Ezzat ; Verma, Ishwar ; Nair, Sreelata ; Turner, Emily H ; Smith, Joshua D ; Jarvik, Gail P ; Byers, Peter H

American journal of human genetics, 2013-04, Vol.92 (4), p.590-597 [Rivista Peer Reviewed]

Fulltext disponibile

Risutati 1 - 10 di 2.342  per Ricerca globale

Risultati 1 2 3 4 5 next page

Personalizza i tuoi risultati

  1. Edita

Refine Search Results

Espandi i risultati

  1.   

Mostra solo

  1. Riviste Peer-reviewed (1.548)

Affina i risultati

Nuove accessioni 

  1. Dall'ultimo Mese 
  2. Dagli Ultimi 3 Mesi 
  3. Altre opzioni open sub menu

Data di pubblicazione 

Da A
  1. Prima del2001 
  2. 2001-2005 
  3. 2006-2009 
  4. 2010-2014 
  5. Dopo il 2014 
  6. Altre opzioni open sub menu

Ricerca in corso nelle risorse remote ...