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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 -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)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