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American Journal of Medical Genetics. Part A|August 12, 2014
Fetal phenotype associated with the 22q11 deletionAnne-Claire Noël, Fanny Pelluard, Anne-Lise Delezoide, et al.Neurosurgery|September 24, 2015
Primary Leptomeningeal Gliomatosis in Children and Adults: A Morphological and Molecular Comparative Study With Literature ReviewArnault Tauziede-Espariat, Andre Maues de Paula, Melanie Pages, et al.Human Mutation|February 7, 2008
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with coresNicole Monnier, Isabelle Marty, Julien Faure, et al.Human Molecular Genetics|September 12, 2012
Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disordersKatell Peoc'h, Etienne Levavasseur, Emilien Delmont, et al.Prenatal Diagnosis|November 19, 2016
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 casesAude Tessier, Mélie Sarreau, Fanny Pelluard, et al.Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2BStefanie Brock, Annie Laquerriere, Florent Marguet, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 30, 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityMarine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.Human Genetics|March 25, 2024
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephalyCharlotte Herbst, Viktoria Bothe, Meret Wegler, et al.Brain Pathology (Zurich, Switzerland)|November 20, 2014
Prognostic Relevance of Histomolecular Classification of Diffuse Adult High-Grade Gliomas with NecrosisDominique Figarella-Branger, Karima Mokhtari, Carole Colin, et al.Alzheimer'S Research & Therapy|May 11, 2023
Phenotype and imaging features associated with APP duplicationsLou Grangeon, Camille Charbonnier, Aline Zarea, et al.Pageof 4