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

URL الوصول: https://escholarship.org/uc/item/9ct9z1sm

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

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

الاتاحة: https://doi.org/10.1177/23247096231157918
https://journals.sagepub.com/doi/pdf/10.1177/23247096231157918
https://journals.sagepub.com/doi/full-xml/10.1177/23247096231157918

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

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100487
https://api.elsevier.com/content/article/PII:S2949774423004879?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423004879?httpAccept=text/plain

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.

المساهمون: University of Alabama, University of Alabama at Birmingham

المصدر: Genetics in Medicine ; volume 26, issue 1, page 101010 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.101010
https://api.elsevier.com/content/article/PII:S1098360023010262?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023010262?httpAccept=text/plain

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

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

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2022.01.012
https://api.elsevier.com/content/article/PII:S1096719222000361?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719222000361?httpAccept=text/plain

المؤلفون: Dean, S. Joy

المصدر: DeckerMed Obstetrics and Gynecology

الاتاحة: http://dx.doi.org/10.2310/obg.19140