Showing results (11-20 of 121) with videos related to

Sort By:
Pageof 13
Arthritis and Rheumatism|August 9, 2003
Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populationsCécile Cazeneuve, Zaruhi Hovannesyan, David Geneviève, et al.
Diagnostics (Basel, Switzerland)|December 30, 2025
Genetic Heterogeneity Underlying Familial Short StatureMargot Comel, Mouna Barat-Houari, Fanny Alkar, et al.
BMC Psychiatry|August 25, 2022
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDARomain Coutelle, Morgane Boedec, Karlijn Vermeulen, et al.
Clinical Epigenetics|April 29, 2025
Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signatureQuentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disabilityMarie Vincent, Corinne Collet, Alain Verloes, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delayCyril Amouroux, Marie Vincent, Patricia Blanchet, et al.
American Journal of Medical Genetics. Part A|September 4, 2015
Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorderAnouck Schneider, Jacques Puechberty, Bee Ling Ng, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 29, 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication interventionElana J Forbes, Lottie D Morison, Fatma Lelik, et al.
European Journal of Human Genetics : EJHG|February 24, 2005
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardationDavid Geneviève, Delphine Héron, Vincent El Ghouzzi, et al.
Prenatal Diagnosis|November 12, 2024
Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working GroupGuillaume Cogan, Marie-Bérengère Troadec, Françoise Devillard, et al.
Pageof 13