المؤلفون: Bérénice Hervé, Thibaud Quibel, Rodolphe Dard, D. Molina-Gomes, F. Vialard, Sophie Roy, Hela Bellil

المساهمون: centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], CHI Poissy-Saint-Germain

المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63 (8), ⟨10.1016/j.ejmg.2020.103956⟩

مصطلحات موضوعية: 0301 basic medicine, Genetic counseling, Prenatal diagnosis, Locus (genetics), 030105 genetics & heredity, Biology, 03 medical and health sciences, Intellectual disability, Gene duplication, Genetics, medicine, Copy-number variation, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Inheritance, Variant of unknown significance, Susceptibility locus, General Medicine, medicine.disease, Penetrance, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 2q13 microduplication, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::989f7a57b8e623cb0ef019e27aaedb9e
https://doi.org/10.1016/j.ejmg.2020.103956

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