المؤلفون: Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F, Wei, Angela, Elliott, Kathryn, Goodloe, Dana H, Dean, S Joy, Gooch, Catherine, Murray, Brianna K, Swartz, Erin, Vergano, Samantha A Schrier, Towne, Meghan C, Nugent, Kimberly, Roeder, Elizabeth R, Kresge, Christina, Pletcher, Beth A, Grand, Katheryn, Graham, John M, Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J, Cohen, Julie S, Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Agrawal, Pankaj B, Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A, Tauber, Kate A, Azova, Svetlana, Smith, Jessica R, O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N, Arboleda, Valerie A

المصدر: Molecular Genetics & Genomic Medicine. 9(10)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Congenital Structural Anomalies, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Alleles, Blepharophimosis, Cohort Studies, Congenital Hypothyroidism, Craniofacial Abnormalities, Facies, Genetic Association Studies, Genetic Counseling, Genetic Loci, Genetic Predisposition to Disease, Genotype, Heart Defects, Congenital, Histone Acetyltransferases, Humans, Intellectual Disability, Joint Instability, Kidney, Male, Mutation, Patella, Phenotype, Psychomotor Disorders, Scrotum, Urogenital Abnormalities, CRISPR, Genitopatellar syndrome, KAT6B-related disorders, phenotypic spectrum, Say-Barber-Biesecker-Young-Simpson syndrome, variable expressivity, rare genetic diagnosis, variable expressivity, rare genetic diagnosis, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9ct9z1smTest

المؤلفون: Matalka, Leen, Dean, S. Joy, Beauchamp, Giovanna, Sunil, Bhuvana

المصدر: Journal of Investigative Medicine High Impact Case Reports ; volume 11, page 232470962311579 ; ISSN 2324-7096 2324-7096

مصطلحات موضوعية: Safety Research, Safety, Risk, Reliability and Quality, Epidemiology

الإتاحة: https://doi.org/10.1177/23247096231157918Test

المؤلفون: Chen, Yunjia, Karaca, Ender, Robin, Nathaniel, Goodloe, Dana, Al-Beshri, Ali, Dean, S. Joy, Hurst, Anna, Carroll, Andrew, Mikhail, Fady

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100487 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100487Test
https://api.elsevier.com/content/article/PII:S2949774423004879?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423004879?httpAccept=text/plainTest

المؤلفون: Chen, Yunjia, Karaca, Ender, Robin, Nathaniel H, Goodloe, Dana, Al-Beshri, Ali, Dean, S Joy, Hurst, Anna C E, Carroll, Andrew J, Mikhail, Fady M

المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:1

مصطلحات موضوعية: Congenital anomalies, DLG2, Dysmorphism, Intragenic deletion, Neurodevelopmental disorders

العلاقة: https://doi.org/10.1016/j.gim.2023.101010Test; https://pubmed.ncbi.nlm.nih.gov/37860969Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.101010Test
https://pubmed.ncbi.nlm.nih.gov/37860969Test

المؤلفون: Villa, Caterina Abdala, Cassady, Jennifer A., Dean, S. Joy

المصدر: Molecular Genetics and Metabolism ; volume 135, issue 4, page 256 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2022.01.012Test
https://api.elsevier.com/content/article/PII:S1096719222000361?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719222000361?httpAccept=text/plainTest

المؤلفون: Dean, S. Joy

المصدر: DeckerMed Obstetrics and Gynecology

الإتاحة: https://doi.org/10.2310/obg.19140Test

المؤلفون: Chen, Yunjia, Karaca, Ender, Robin, Nathaniel H., Goodloe, Dana, Al-Beshri, Ali, Dean, S. Joy, Hurst, Anna C.E., Carroll, Andrew J., Mikhail, Fady M.

المصدر: Genetics in Medicine; 20230101, Issue: Preprints