Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "ODENT, Sylvie"
Mostrando ítems 1-6 de 6
-
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
MESSIAEN, Claude; RACINE, Caroline; KHATIM, Ahlem ...(Orphanet Journal of Rare Diseases. vol. 16, n° 1, 2021-08-04)Article de revueLibre acceso -
Adult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients
TOQUET, Segolene; SPODENKIEWICZ, Marta; DOUILLARD, Claire ...(Journal of Inherited Metabolic Disease, 2021-05-20)Article de revue -
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 -
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
COURDIER, Cécile; BOUDJARANE, John; MALAN, Valérie ...(Prenatal Diagnosis. vol. 43, n° 6, pp. 734-745, 2023-03-06)Article de revueLibre acceso -
Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study
ROUX-LEVY, Pierre-Henri; SANLAVILLE, Damien; DE FREMINVILLE, Benedicte ...(European Journal of Medical Genetics. vol. 64, n° 10, 2021-10)Article de revue -
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