Showing results (51-60 of 70) with videos related to

Sort By:
Pageof 7
JAMA Neurology|August 15, 2017
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and PhenotypesCarolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, et al.
American Journal of Human Genetics|April 17, 2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusF Lucy Raymond, Patrick S Tarpey, Sarah Edkins, et al.
European Journal of Human Genetics : EJHG|January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresMarkus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
American Journal of Medical Genetics. Part A|October 11, 2018
Proceedings of the fifth international RASopathies symposium: When development and cancer intersectKatherine A Rauen, Lisa Schoyer, Lisa Schill, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
The Lancet. Neurology|December 3, 2013
The genetic basis of DOORS syndrome: an exome-sequencing studyPhilippe M Campeau, Dalia Kasperaviciute, James T Lu, et al.
American Journal of Human Genetics|January 20, 2007
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey, F Lucy Raymond, Sarah O'Meara, et al.
Pageof 7