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Acta Neuropathologica|April 25, 2012
Next generation sequencing for molecular diagnosis of neuromuscular diseasesNasim Vasli, Johann Böhm, Stéphanie Le Gras, et al.Journal of Medical Genetics|July 10, 2012
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromesClaire Redin, Stéphanie Le Gras, Oussema Mhamdi, et al.Proceedings of the National Academy of Sciences of the United States of America|May 29, 2016
Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neuronsRicardos Tabet, Enora Moutin, Jérôme A J Becker, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 31, 2025
Behavioral, neurodevelopmental profile, and epilepsy trajectory in two series of SLC6A1-NDD: A retrospective study with comprehensive assessment, and a participatory database studySarah Baer, Mathieu Rebert, Pauline Burger, et al.American Journal of Human Genetics|December 13, 2016
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisFrancesca Mattioli, Elise Schaefer, Alex Magee, et al.Genetics in Medicine Open|December 13, 2024
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndromeFlorent Colin, Pauline Burger, Timothée Mazzucotelli, et al.American Journal of Medical Genetics. Part A|January 5, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystoniaMireille Cossée, Laurence Faivre, Christophe Philippe, et al.Molecular Psychiatry|August 15, 2018
Sex-specific impact of prenatal androgens on social brain default mode subsystemsMichael V Lombardo, Bonnie Auyeung, Tiziano Pramparo, et al.Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.European Journal of Medical Genetics|November 4, 2010
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypesElise Schaefer, Myriam Durand, Corinne Stoetzel, et al.Pageof 21