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1دورية أكاديمية
المؤلفون: Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi JL, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H
المصدر: Genetics. 217(2)
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Chromosome Breakpoints, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Craniofacial Abnormalities, Developmental Disabilities, Genomic Structural Variation, Heart Defects, Congenital, Humans, Intellectual Disability, Mental Disorders, Segmental Duplications, Genomic, Seizures, Williams Syndrome, segmental duplications, genome mapping, structural variation, genomic disorders, Developmental Biology, Biochemistry and cell biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/15562671
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2دورية أكاديمية
المؤلفون: Ng, Bobby G, Eklund, Erik A, Shiryaev, Sergey A, Dong, Yin Y, Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J, Barr, Eileen, Bernstein, Jonathan A, Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K, Ciliberto, Michael A, Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D, Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S, Hoganson, George E, Houck, Kimberly M, Kohler, Jennefer N, Morava, Eva, Larson, Austin A, Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi JL, Miller, Rebecca, Monaghan, Kristin G, Nickerson, Deborah A, Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A, Scheffer, Ingrid E, Schenone, Andrea Beatriz, Schnur, Rhonda E, Si, Yue, Rowe, Leah J, Russi, Alvaro H Serrano, Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y, Webster, Richard I, Wilson, Dorcas, Zalan, Alice, Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases, Wolfe, Lynne A, Rosenfeld, Jill A, Rhodes, Lindsay, Freeze, Hudson H
المصدر: Journal of Inherited Metabolic Disease. 43(6)
مصطلحات موضوعية: Pediatric, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, Biomarkers, Child, Preschool, Congenital Disorders of Glycosylation, Diet, Ketogenic, Female, Glycosylation, Humans, Infant, Male, Mutation, N-Acetylglucosaminyltransferases, Spasms, Infantile, Transferrin, congenital disorders of glycosylation, epilepsy, N-linked glycosylation, whole exome sequencing, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3x16x320
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3دورية أكاديمية
المؤلفون: Hallgrímsson, Benedikt, Aponte, J David, Katz, David C, Bannister, Jordan J, Riccardi, Sheri L, Mahasuwan, Nick, McInnes, Brenda L, Ferrara, Tracey M, Lipman, Danika M, Neves, Amanda B, Spitzmacher, Jared AJ, Larson, Jacinda R, Bellus, Gary A, Pham, Anh M, Aboujaoude, Elias, Benke, Timothy A, Chatfield, Kathryn C, Davis, Shanlee M, Elias, Ellen R, Enzenauer, Robert W, French, Brooke M, Pickler, Laura L, Shieh, Joseph TC, Slavotinek, Anne, Harrop, A Robertson, Innes, A Micheil, McCandless, Shawn E, McCourt, Emily A, Meeks, Naomi JL, Tartaglia, Nicole R, Tsai, Anne C-H, Wyse, J Patrick H, Bernstein, Jonathan A, Sanchez-Lara, Pedro A, Forkert, Nils D, Bernier, Francois P, Spritz, Richard A, Klein, Ophir D
المصدر: Genetics in Medicine. 22(10)
مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Congenital, Face, Humans, Imaging, Three-Dimensional, Syndrome, syndromes, facial imaging, deep phenotyping, diagnosis, morphometrics, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0tv3r47x