Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "QUELIN, Chloe"
Now showing items 1-3 of 3
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Severe phenotype in patients with large deletions of NF1
PACOT, Laurence; VIDAUD, Dominique; SABBAGH, Audrey ...(Cancers. vol. 13, n° 12, 2021-06-13)Article de revueOpen access -
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
LEVAILLANT, Lucie; BOUHOURS-NOUET, Natacha; ILLOUZ, Frederic ...(Journal of Clinical Endocrinology and Metabolism. vol. 108, n° 9, pp. e779-e788, 2023-03-08)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