Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "JACQUEMONT, Marie-Line"
Now showing items 1-3 of 3
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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 -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
FAIVRE, Laurence; CRÉPIN, Jean-Charles; RÉDA, Manon ...(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue