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Clinical Genetics|November 25, 2024
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia DiagnosisLaurie Surles, Alexandre Janin, Corentin Molitor, et al.
Epilepsia Open|March 28, 2024
Idiopathic generalized epilepsy in a family with SCN4A-related myotoniaMariagrazia Talarico, Francesco Fortunato, Audrey Labalme, et al.
The Journal of Craniofacial Surgery|June 9, 2025
Impact of SMAD6 Variants on Neurodevelopment in CraniosynostosisIsabelle Verlut, Sofia Guernouche, Massimiliano Rossi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 22, 2018
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?Marie-Laure Mathieu, Julitta de Bellescize, Marianne Till, et al.
European Journal of Human Genetics : EJHG|February 2, 2023
Clinical interest of molecular study in cases of isolated midline craniosynostosisFederico Di Rocco, Massimiliano Rossi, Isabelle Verlut, et al.
Brain : a Journal of Neurology|October 15, 2019
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variantsNicolas Chatron, Sara Cabet, Eudeline Alix, et al.
NAR Genomics and Bioinformatics|November 5, 2025
ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO formatLucas W Gauthier, Marjolaine Willems, Nicolas Chatron, et al.
Cells|October 27, 2023
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170RYonika A Larasati, Gonzalo P Solis, Alexey Koval, et al.
European Journal of Medical Genetics|December 9, 2023
GRM7-related disorder: five additional patients from three independent families and review of the literatureLouis Januel, Nicolas Chatron, Clotilde Rivier-Ringenbach, et al.
American Journal of Medical Genetics. Part A|March 21, 2024
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regionsSouad Bensaid, Malika Bendahmane, Sara Loddo, et al.
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