Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "EDERY, Patrick"
Now showing items 1-5 of 5
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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 revueOpen access -
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 -
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
MICELI, Francesco; MILLEVERT, Charissa; SOLDOVIERI, Maria Virginia ...(EBioMedicine. vol. 81, pp. 104130, 2022-07-01)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 -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
FAIVRE, Laurence; CRÉPIN, Jean-Charles; RÉDA, Manon ...(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue