Recherche
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Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
(Genes. vol. 13, n° 12, 2022-11-23)Article de revueLibre accès -
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
(BMC Neurology. vol. 22, n° 1, pp. 53, 2022-02-12)Article de revueLibre accès -
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
(American Journal of Medical Genetics Part A. vol. 188, n° 9, pp. 2627-2636, 2022-09)Article de revueLibre accès -
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
(Brain and Development. vol. 44, n° 8, pp. 567-570, 2022-09-01)Article de revue -
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
(Nature Communications. vol. 13, n° 1, pp. 3939, 2022-07-08)Article de revueLibre accès