Showing results (311-320 of 333) with videos related to
Sort By:
Pageof 34
American Journal of Medical Genetics. Part A|November 1, 2008
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 geneJohn M Graham, Jeannie Visootsak, Elisabeth Dykens, et al.Nature Genetics|March 6, 2007
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg, John M Graham, Robin D Clark, et al.JCI Insight|March 30, 2021
Inhibition of HIF-prolyl hydroxylases improves healing of intestinal anastomosesMoritz J Strowitzki, Gwendolyn Kimmer, Julian Wehrmann, et al.American Journal of Human Genetics|September 12, 2007
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndromeTadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, et al.Nature Genetics|May 23, 2018
Multiplex assessment of protein variant abundance by massively parallel sequencingKenneth A Matreyek, Lea M Starita, Jason J Stephany, et al.Nature Genetics|November 14, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22N A Quaderi, S Schweiger, K Gaudenz, et al.American Journal of Medical Genetics. Part A|November 18, 2008
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defectsSilvana C Santos, Eliete Pardono, Maria Ione Ferreira da Costa, et al.Scientific Reports|March 11, 2017
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C SyndromesRoser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, et al.Journal of Virology|December 29, 2006
The antiviral efficacy of simian immunodeficiency virus-specific CD8+ T cells is unrelated to epitope specificity and is abrogated by viral escapeJohn T Loffredo, Benjamin J Burwitz, Eva G Rakasz, et al.Journal of Immunology (Baltimore, Md. : 1950)|February 22, 2007
Gag-specific CD8+ T lymphocytes recognize infected cells before AIDS-virus integration and viral protein expressionJonah B Sacha, Chungwon Chung, Eva G Rakasz, et al.Pageof 34