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1Academic Journal
المؤلفون: 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, Genomics, University of Washington Center for Mendelian, 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, 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, Smith, Joshua D, Staples, Jeffrey C, Tabor, Holly K, Tackett, Monica, Underwood, Jason G, Wegener, Marc, Wang, Gao, Wheeler, Marsha M, Yi, Qian
المصدر: American Journal of Human Genetics. 96(5)
مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Clinical Research, Congenital Structural Anomalies, Rare Diseases, Pediatric, Arthrogryposis, Cytoskeletal Proteins, Exome, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Mutation, Myosins, Osteogenesis, University of Washington Center for Mendelian Genomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3qs4t8sg
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2Academic Journal
المؤلفون: 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 CM, Kaplan, Paige, Kline, Antonie D, Mercer, Catherine L, Nowaczyk, Malgorzata JM, Wassink-Ruiter, Jolien S Klein, 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, Genomics, University of Washington Center for Mendelian, 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
المصدر: American Journal of Human Genetics. 96(3)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Congenital Structural Anomalies, Pediatric, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Congenital, Arthrogryposis, Contracture, Craniofacial Dysostosis, Cytoskeletal Proteins, Exome, Extremities, Face, Female, Gene Frequency, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Infant, Ion Channels, Male, Membrane Proteins, Muscle Hypotonia, Mutation, Missense, Sodium Channels, University of Washington Center for Mendelian Genomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/59c5b36g
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3Academic Journal
المؤلفون: Shahzad, Mohsin, Yousaf, Sairah, Waryah, Yar M., Gul, Hadia, Kausar, Tasleem, Tariq, Nabeela, Mahmood, Umair, Ali, Muhammad, Khan, Muzammil A., Waryah, Ali M., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Marchani Blue, Elizabeth, 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., McGee, Sean, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Ragan, Seamus, Reinier, Frederic
المصدر: Scientific Reports ; volume 7, issue 1 ; ISSN 2045-2322