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Nature Genetics|May 27, 2003
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix proteinLesley McGregor, Ville Makela, Susan M Darling, et al.European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.Human Mutation|January 7, 2010
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activationTomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, et al.Journal of Medical Genetics|October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndromeBernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.European Journal of Medical Genetics|September 30, 2020
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndromePierre-Henri Roux-Levy, Marie Bournez, Alice Masurel, et al.Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.Journal of Medical Genetics|July 27, 2010
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndromeSalima El Chehadeh, Bernard Aral, Nadège Gigot, et al.American Journal of Human Genetics|April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like FaciesMarcello Niceta, Emilia Stellacci, Karen W Gripp, et al.Journal of Clinical Immunology|February 28, 2015
Infectious and immunologic phenotype of MECP2 duplication syndromeMichael Bauer, Uwe Kölsch, Renate Krüger, et al.Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.Pageof 10