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Human Mutation|April 15, 2021
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorderJudith Halewa, Sylviane Marouillat, Manon Dixneuf, et al.Human Mutation|May 22, 2018
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-functionLyse Ruaud, Gillian I Rice, Christelle Cabrol, et al.Clinical Genetics|December 28, 2020
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohortNicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, et al.Medrxiv : the Preprint Server for Health Sciences|July 14, 2025
Loss of function variants in <i>ADAMTS6</i> : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)Júlia Huguet Herrero, Pauline Arnaud, Angelique Bibimbou, et al.European Journal of Human Genetics : EJHG|January 7, 2022
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.Clinical Genetics|June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorderJonathan Lévy, Bérénice Schell, Hala Nasser, et al.Genes|June 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the LiteratureAlejandro Parra, Rachel Rabin, John Pappas, et al.Proceedings of the National Academy of Sciences of the United States of America|February 21, 2023
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafishDeepak Khatri, Audrey Putoux, Audric Cologne, et al.Journal of Medical Genetics|February 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndromeAlicia Coudert, Pauline Le Tanno, William Dufour, et al.Clinical Genetics|February 29, 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndromeAnna Gerasimenko, Cyril Mignot, Olivier Naggara, et al.Pageof 3