Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "NIZON, Mathilde"
Now showing items 1-6 of 6
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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 -
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 -
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
ROUXEL, Flavien; YAUY, Kevin; BOURSIER, Guilaine ...(European Journal of Human Genetics. vol. 30, n° 6, pp. 682-686, 2022-06-01)Article de revue -
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
TRAN MAU THEM, Frederic; DELANNE, Julian; DENOMMÉ-PICHON, Anne-Sophie ...(Frontiers in Genetics. vol. 14, pp. 1099995, 2023-01-01)Article de revueOpen access -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
PALMER, Elizabeth E; PUSCH, Michael; PICOLLO, Alessandra ...(Molecular Psychiatry. vol. 28, n° 2, pp. 668-697, 2023-02-01)Article de revueOpen access