Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "JEAN-MARÇAIS, Nolwenn"
Now showing items 1-2 of 2
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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 -
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
DENOMMÉ-PICHON, Anne-Sophie; MATALONGA, Leslie; DE BOER, Elke ...(Genetics in Medicine. vol. 25, n° 4, pp. 100018, 2023-04-01)Article de revueOpen access