Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "NICOLAS, Gael"
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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
COURSIMAULT, Juliette; CASSINARI, Kevin; LECOQUIERRE, François ...(Human Mutation. vol. 43, n° 12, pp. 1882-1897, 2022-12-01)Article de revueOpen access -
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