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American Journal of Medical Genetics. Part A|March 23, 2017
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and updateAnnie Ting Gee Chiu, Gordon Ka-Chun Leung, Yoyo Wing-Yiu Chu, et al.American Journal of Medical Genetics. Part A|July 24, 2012
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human developmentKaren W Gripp, Eugenia Bifeld, Deborah L Stabley, et al.Human Genetics|June 4, 2005
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected childrenStephen W Scherer, Karen W Gripp, Jaume Lucena, et al.American Journal of Medical Genetics. Part A|January 19, 2008
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataractsKaren W Gripp, Caitlyn Johnson, Charles I Scott, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2013
Assessing genotype-phenotype correlation in Costello syndrome using a severity scoreElizabeth M McCormick, Elizabeth Hopkins, Laura Conway, et al.American Journal of Medical Genetics. Part A|April 4, 2017
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13AspDébora Bertola, Michelle Buscarilli, Deborah L Stabley, et al.Anais Brasileiros De Dermatologia|July 9, 2011
Mucous membrane pemphigoid with severe esophageal strictureLívia do Nascimento Barbosa, Roberto Souto da Silva, Gustavo Costa Verardino, et al.European Journal of Human Genetics : EJHG|June 6, 2020
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspectsKaren W Gripp, Laura Baker, Katherine M Robbins, et al.Journal of Medical Case Reports|October 16, 2009
Leser-Trélat sign presenting in a patient with ovarian cancer: a case reportEdwin Bölke, Peter Arne Gerber, Matthias Peiper, et al.Neuropediatrics|January 4, 2005
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizuresG Mirzaa, N N Dodge, I Glass, et al.Pageof 42