Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "JAVERZAT, Sophie"
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A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
SERGOUNIOTIS, Panagiotis I; MICHAUD, Vincent; LASSEAUX, Eulalie ...(Journal of Medical Genetics. vol. 60, n° 12, pp. 1245-1249, 2023-11-27)Article de revueLibre acceso -
Dopachrome tautomerase variants in patients with oculocutaneous albinism
PENNAMEN, Perrine; TINGAUD-SEQUEIRA, Angele; GAZOVA, Iveta ...(Genetics in Medicine. vol. 23, n° 3, pp. 479-487, 2021)Article de revue -
The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
TINGAUD-SEQUEIRA, Angele; MERCIER, Elina; MICHAUD, Vincent ...(Genes. vol. 13, n° 7, pp. 1164, 2022-06-27)Article de revueLibre acceso -
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
MICHAUD, Vincent; SEQUEIRA, Angèle; MERCIER, Elina ...(Pigment Cell & Melanoma research, 2023-08-31)Article de revueLibre acceso