Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "INNES, A. Micheil"
Now showing items 1-2 of 2
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
PELLETIER, Felixe; PERRIER, Stefanie; CAYAMI, Ferdy K. ...(Journal of Clinical Endocrinology and Metabolism. vol. 106, n° 2, pp. E660-E674, 2021-10-01)Article de revueOpen access -
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
LINES, Matthew A; GOLDENBERG, Paula; WONG, Ashley ...(American Journal of Medical Genetics Part A. vol. 188, n° 6, pp. 1667-1675, 2022-06-01)Article de revue