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

المصدر: Journal of Investigative Medicine High Impact Case Reports, Vol 11 (2023)

مصطلحات موضوعية: Medicine (General), R5-920, Pathology, RB1-214

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-7096

URL الوصول: https://doaj.org/article/23e5c95a52594ff4b0b4a6e67a49ab17

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

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100487- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423004879; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/04d79fbf72d44419b154ce328890d0a9

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

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)

مصطلحات موضوعية: CRISPR, Genitopatellar syndrome, KAT6B‐related disorders, phenotypic spectrum, Say‐Barber‐Biesecker‐Young‐Simpson syndrome, variable expressivity, rare genetic diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd

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

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 9, iss 10

مصطلحات موضوعية: Male, Say-Barber-Biesecker-Young-Simpson syndrome, rare genetic diagnosis, QH426-470, Bioinformatics, Kidney, Cohort Studies, Craniofacial Abnormalities, Congenital, Intellectual disability, Medicine, CRISPR, 2.1 Biological and endogenous factors, variable expressivity, rare genetic diagnosis, Medical diagnosis, Aetiology, Genetics (clinical), Heart Defects, Histone Acetyltransferases, Pediatric, Patella, Phenotype, Scrotum, Original Article, Abnormalities, KAT6B-related disorders, Multiple, Heart Defects, Congenital, Joint Instability, Genitopatellar syndrome, Genotype, Genetic counseling, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Genetic Counseling, Blepharophimosis, Medicinal and Biomolecular Chemistry, Rare Diseases, Clinical Research, variable expressivity, Intellectual Disability, Congenital Hypothyroidism, Genetics, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Testing, Craniofacial, Molecular Biology, Alleles, Genetic Association Studies, KAT6B‐related disorders, business.industry, Facies, Original Articles, medicine.disease, Say‐Barber‐Biesecker‐Young‐Simpson syndrome, Transcriptome Sequencing, Brain Disorders, Genetic Loci, Urogenital Abnormalities, Mutation, Congenital Structural Anomalies, Psychomotor Disorders, business, phenotypic spectrum

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3049de7f8ff607c1be67244b27b4cfb4
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd

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

المصدر: Molecular Genetics and Metabolism. 135:256

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::713d63187c9f9e6892143bc04290a58d
https://doi.org/10.1016/j.ymgme.2022.01.012

المؤلفون: S. Joy Dean

المصدر: DeckerMed Obstetrics and Gynecology.

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, business.industry, nutritional and metabolic diseases, Medicine, Metabolism, Bioinformatics, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f7af41a07b68250682b7fcff62d81931
https://doi.org/10.2310/obg.19140