Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "RIO, Marlène"
Now showing items 1-3 of 3
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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
JOURET, Guillaume; EGLOFF, Matthieu; LANDAIS, Emilie ...(American Journal of Medical Genetics Part A. vol. 191, n° 1, pp. 52-63, 2023-01-01)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 revueOpen access -
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
SZENKER-RAVI, Emmanuelle; OTT, Tim; KHATOO, Muznah ...(Nature Genetics. vol. 54, n° 6, pp. 906, 2022-06-01)Article de revue