Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "NAUDION, Sophie"
Mostrando ítems 1-5 de 5
-
Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal
DE VRIENDT, Manon; ROORYCK, Caroline; COATLEVEN, Frédéric ...(Gynécologie Obstétrique Fertilité & Sénologie. vol. 51, n° 7-8, pp. 367-371, 2023-07-08)Article de revue -
De novo variants in ATP2B1 lead to neurodevelopmental delay.
RAHIMI, Meer Jacob; URBAN, Nicole; WEGLER, Meret ...(American Journal of Human Genetics. vol. 109, n° 5, pp. 944-952, 2022-05-05)Article de revueLibre acceso -
ARF1-related disorder: phenotypic and molecular spectrum
DE SAINTE AGATHE, Jean-Madeleine; PODE-SHAKKED, Ben; NAUDION, Sophie ...(Journal of Medical Genetics. vol. 60, n° 10, pp. 999-1005, 2023-04-25)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 -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
PALMER, Elizabeth E; PUSCH, Michael; PICOLLO, Alessandra ...(Molecular Psychiatry. vol. 28, n° 2, pp. 668-697, 2023-02-01)Article de revueLibre acceso