Showing results (91-100 of 150) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|September 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disordersMarlène Malbos, Thierry Gautier, Amelle Shillington, et al.
Neurology. Genetics|December 12, 2018
Delineating <i>FOXG1</i> syndrome: From congenital microcephaly to hyperkinetic encephalopathyNancy Vegas, Mara Cavallin, Camille Maillard, et al.
European Journal of Medical Genetics|November 22, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathwayJulian Delanne, Magaly Lecat, Patrick R Blackburn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouseAnne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, et al.
Frontiers in Cell and Developmental Biology|November 17, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variantsEstelle Colin, Yannis Duffourd, Emilie Tisserant, et al.
Clinical Genetics|January 8, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trialsAurore Garde, Laurent Guibaud, Alice Goldenberg, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disordersJulian Delanne, Ange-Line Bruel, Frédéric Huet, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, et al.
Prenatal Diagnosis|August 13, 2024
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disordersChristel Thauvin-Robinet, Aurore Garde, Julian Delanne, et al.
Prenatal Diagnosis|July 23, 2025
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHSCharlène Daval, Nicolas Meunier-Beillard, Eléonore Viora-Dupont, et al.
Pageof 15