Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "GARDE, Aurore"
Now showing items 1-3 of 3
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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 revueOpen access -
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 revueOpen access -
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
GARDE, Aurore; GUIBAUD, Laurent; GOLDENBERG, Alice ...(Clinical Genetics. vol. 99, n° 5, pp. 650-661, 2021-01-07)Article de revue