Recherche
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Albinism: An Underdiagnosed Condition.
(Journal of Investigative Dermatology. vol. 140, n° 7, pp. 1449-1451, 2020-07-01)Article de revue -
Clinical variability and probable founder effect in oculocutaneous albinism type 7.
(Clinical Genetics. vol. 97, n° 3, pp. 527-528, 2020-03-01)Article de revue -
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
(Genetics in Medicine. vol. 22, n° 10, pp. 1613-1622, 2020-10-01)Article de revue