Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "ZIEGLER, Alban"
Mostrando ítems 1-4 de 4
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The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
LEVAILLANT, Lucie; BOUHOURS-NOUET, Natacha; ILLOUZ, Frederic ...(Journal of Clinical Endocrinology and Metabolism. vol. 108, n° 9, pp. e779-e788, 2023-03-08)Article de revueLibre acceso -
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
HUSSON, Thomas; LECOQUIERRE, François; NICOLAS, Gaël ...(European Journal of Human Genetics, 2023-10-23)Article de revueLibre acceso -
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
TRAN MAU THEM, Frederic; DELANNE, Julian; DENOMMÉ-PICHON, Anne-Sophie ...(Frontiers in Genetics. vol. 14, pp. 1099995, 2023-01-01)Article de revueLibre acceso -
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
BESSIS, Didier; BURSZTEJN, Anne-Claire; MORICE-PICARD, Fanny ...(Journal of the European Academy of Dermatology and Venereology, 2024-04-10)Article de revueLibre acceso