Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "TABET, Anne-Claude"
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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 -
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
COURDIER, Cécile; BOUDJARANE, John; MALAN, Valérie ...(Prenatal Diagnosis. vol. 43, n° 6, pp. 734-745, 2023-03-06)Article de revueOpen access