المؤلفون: Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, Malicdan, May Christine V

المصدر: American journal of human genetics, vol 105, iss 2

مصطلحات موضوعية: Adult, Male, CG12333, WD40 Repeats, Developmental Disabilities, Intellectual and Developmental Disabilities (IDD), Sequence Homology, Neurodegenerative, Nervous System Malformations, Medical and Health Sciences, Young Adult, Rare Diseases, Cerebellum, Intellectual Disability, WDR37 domains, Genetics, Animals, Humans, 2.1 Biological and endogenous factors, Amino Acid Sequence, Aetiology, Child, Pediatric, Genetics & Heredity, Epilepsy, Microfilament Proteins, Neurosciences, Infant, Undiagnosed Diseases Network, wdr37, Biological Sciences, Newborn, Body Dysmorphic Disorders, bang sensitivity, Brain Disorders, Coloboma, Drosophila melanogaster, Phenotype, Mutation, Neurological, Congenital Structural Anomalies, Female, Drosophila

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______325::734544e654fc552cfffeea8291641ca4Test
https://escholarship.org/uc/item/8wx8g9p6Test

المؤلفون: Macnamara, Ellen F, Koehler, Alanna E, D'Souza, Precilla, Estwick, Tyra, Lee, Paul, Vezina, Gilbert, Undiagnosed Diseases Network, Fauni, Harper, Braddock, Stephen R, Torti, Erin, Holt, James Matthew, Sharma, Prashant, Malicdan, May Christine V, Tifft, Cynthia J

المصدر: Human mutation, vol 40, iss 5

مصطلحات موضوعية: Male, Member 2, Solute Carrier Family 12, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, gut malrotation, Sensorineural, uniparental isodisomy, cystic fibrosis, Congenital, Rare Diseases, Clinical Research, NKCC1, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Aetiology, Hearing Loss, Child, Preschool, Tomography, Genetic Association Studies, Sequence Deletion, Pediatric, Genetics & Heredity, Homozygote, Neurosciences, Facies, Ear, Undiagnosed Diseases Network, Syndrome, Magnetic Resonance Imaging, X-Ray Computed, Brain Disorders, absent salivation, Phenotype, Genetic Loci, Digestive Diseases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______325::b1505607b7bbae3a57e2400e7d574633Test
https://escholarship.org/uc/item/67x260pjTest

المؤلفون: Kane, Megan, Davids, Mariska, Bond, Michelle, Adams, Christopher, Grout, Megan, Phelps, Ian, O’Day, Diana, Dempsey, Jennifer, Xeuli Li, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John, Doherty, Dan, He, Miao, Malicdan, May, Gahl, William, Boerkoel, Cornelius

مصطلحات موضوعية: carbohydrates (lipids), integumentary system, 3. Good health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7ea758867393c5000556e904fcdd7aacTest

المؤلفون: Kane, Megan, Davids, Mariska, Bond, Michelle, Adams, Christopher, Grout, Megan, Phelps, Ian, O’Day, Diana, Dempsey, Jennifer, Xeuli Li, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John, Doherty, Dan, He, Miao, Malicdan, May, Gahl, William, Boerkoel, Cornelius

مصطلحات موضوعية: carbohydrates (lipids), 3. Good health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ad9153298011675c20c86f2879fbec2aTest

المؤلفون: Kane, Megan, Davids, Mariska, Bond, Michelle, Adams, Christopher, Grout, Megan, Phelps, Ian, O’Day, Diana, Dempsey, Jennifer, Xeuli Li, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John, Doherty, Dan, He, Miao, Malicdan, May, Gahl, William, Boerkoel, Cornelius

مصطلحات موضوعية: carbohydrates (lipids), integumentary system, 3. Good health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6a68b58109c303872bef4e3aeda7099eTest

المؤلفون: Kane, Megan, Davids, Mariska, Bond, Michelle, Adams, Christopher, Grout, Megan, Phelps, Ian, O’Day, Diana, Dempsey, Jennifer, Xeuli Li, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John, Doherty, Dan, He, Miao, Malicdan, May, Gahl, William, Boerkoel, Cornelius

مصطلحات موضوعية: carbohydrates (lipids), 3. Good health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::92e1dfe48e2613887c3389768f8888d8Test