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Translational Psychiatry|October 25, 2012
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHEC Nava, F Lamari, D Héron, et al.Cancer Medicine|June 3, 2026
Metastatic Ewing Sarcoma, Patterns of Care and Outcomes of Patients in a Real-Life National Setting Over a DecadeColine Ducrot, Derek Dinart, Maeva Bonneau, et al.Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.The European Respiratory Journal|April 20, 2023
Autoantibodies are associated with disease progression in idiopathic pulmonary fibrosisKaterina Koether, Valérie Besnard, Hilary Sandig, et al.Pediatric Neurology|July 4, 2025
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 IndividualsMeghane Durizot, Lydie Burglen, Catherine Garel, et al.Orphanet Journal of Rare Diseases|October 30, 2013
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progressionCyril Mignot, Emmanuelle Apartis, Alexandra Durr, et al.Human Molecular Genetics|January 28, 2020
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolismAlessandra Maresca, Valentina Del Dotto, Mariantonietta Capristo, et al.Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.Epilepsia|October 22, 2019
The epileptology of GNB5 encephalopathyGemma Poke, Chontelle King, Alison Muir, et al.Epilepsia|December 24, 2024
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control studyEmanuele Cerulli Irelli, Martina Fanella, Boris Chaumette, et al.Pageof 140