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The Pharmacogenomics Journal|May 19, 2022
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patientsSimon Verdez, Quentin Thomas, Philippine Garret, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variantsFrançois Lecoquierre, Yannis Duffourd, Antonio Vitobello, et al.
European Journal of Human Genetics : EJHG|December 23, 2022
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsyJohannes Luppe, Heinrich Sticht, François Lecoquierre, et al.
Disease Models & Mechanisms|February 22, 2023
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiencyRoberto Oleari, Antonella Lettieri, Stefano Manzini, et al.
Life Science Alliance|October 17, 2019
Drug-induced chromatin accessibility changes associate with sensitivity to liver tumor promotionAntonio Vitobello, Juliane Perner, Johanna Beil, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
European Journal of Human Genetics : EJHG|June 5, 2025
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French networkMarie-Pierre Buisine, Christine Bellanne-Chantelot, Nadège Calmels, et al.
Clinical Genetics|January 31, 2020
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunctionPhilippine Garret, Frédéric Ebstein, Geoffroy Delplancq, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 23, 2020
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genesGeoffroy Delplancq, Georges Tarris, Antonio Vitobello, et al.
European Journal of Human Genetics : EJHG|June 25, 2019
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencingAnge-Line Bruel, Sophie Nambot, Virginie Quéré, et al.
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