Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "GENEVIEVE, David"
Now showing items 1-5 of 5
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Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study
ROUX-LEVY, Pierre-Henri; SANLAVILLE, Damien; DE FREMINVILLE, Benedicte ...(European Journal of Medical Genetics. vol. 64, n° 10, 2021-10)Article de revue -
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
FOROUTAN, Aidin; HAGHSHENAS, Sadegheh; BHAI, Pratibha ...(International Journal of Molecular Sciences. vol. 23, n° 3, 2022-02-05)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 -
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
MESSIAEN, Claude; RACINE, Caroline; KHATIM, Ahlem ...(Orphanet Journal of Rare Diseases. vol. 16, n° 1, 2021-08-04)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