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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 -
Adult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients
(Journal of Inherited Metabolic Disease, 2021-05-20)Article de revue -
Euglycemic ketoacidosis induced by therapeutic fasting in a non-diabetic patient
(Nutrition. vol. 72, pp. 110668, 2020)Article de revue -
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
(American Journal of Medical Genetics Part A. vol. 191, n° 1, pp. 52-63, 2023-01-01)Article de revue -
Evidence of mosaicism in SPAST variant carriers in four French families
(European Journal of Human Genetics. vol. 29, n° 7, pp. 1158-1163, 2021-05-06)Article de revue -
Re-focusing on Agnathia-Otocephaly complex
(Clinical Oral Investigations. vol. 25, n° 3, pp. 1353-1362, 2021)Article de revue -
Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited
(Journal of Neurology, Neurosurgery and Psychiatry. vol. 92, n° 1, 2021)Article de revue -
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 -
Management of albinism: French guidelines for diagnosis and care
(Journal of the European Academy of Dermatology and Venereology. vol. 35, n° 7, pp. 1449-1459, 2021-05-27)Article de revue