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European Journal of Human Genetics : EJHG|January 5, 2017
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsyMassimiliano Rossi, Nicolas Chatron, Audrey Labalme, et al.
Stem Cell Research|November 8, 2019
Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A)Nina V Fuchs, Maximilian Schieck, Michaela Neuenkirch, et al.
American Journal on Intellectual and Developmental Disabilities|February 22, 2023
The French Version of the DABS: Adaptation Process and Preliminary Field TestLorna von Rotz, Yannick Courbois, Vincent Des Portes, et al.
Orphanet Journal of Rare Diseases|September 5, 2015
Behavioral disturbance and treatment strategies in Smith-Magenis syndromeAlice Poisson, Alain Nicolas, Pierre Cochat, et al.
Psychopharmacology|November 1, 2013
The challenges of clinical trials in fragile X syndromeSébastien Jacquemont, Elizabeth Berry-Kravis, Randi Hagerman, et al.
European Journal of Medical Genetics|July 11, 2006
Deleterious mutations in exon 1 of MECP2 in Rett syndromeAline Quenard, Saliha Yilmaz, Hervé Fontaine, et al.
American Journal of Medical Genetics. Part A|April 10, 2014
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girlNadia Boutry-Kryza, Dorothée Ville, Audrey Labalme, et al.
Pediatric Neurology|October 8, 2013
Stroke by carotid artery complete occlusion in Kawasaki disease: case report and review of literatureIsabelle Sabatier, Stéphane Chabrier, Amandine Brun, et al.
European Journal of Medical Genetics|November 11, 2008
Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiencyAurore Curie, Silvia Sacco, Gérald Bussy, et al.
Cytogenetic and Genome Research|December 17, 2015
Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7Camille Louvrier, Grégory Egea, Audrey Labalme, et al.
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