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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 -
Pre-operative peripheral intravenous cannula insertion failure at the first attempt in adults: Development of the VENSCORE predictive scale and identification of risk factors
(Journal of Clinical Anesthesia. vol. 75, pp. 110435, 2021-07-22)Article de revueOpen access -
A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts.
(Small. pp. 2304082, 2023-09-28)Article de revueOpen access -
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
(Journal of Clinical Medicine. vol. 11, n° 5, pp. 1233, 2022-02-24)Article de revueOpen access -
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
(vol. 58, n° 3, pp. 295-302, 2023-03-01)Article de revueOpen access -
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
(Journal of Clinical Endocrinology and Metabolism. vol. 108, n° 9, pp. e779-e788, 2023-03-08)Article de revueOpen access -
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
(European Journal of Human Genetics, 2023-10-23)Article de revueOpen access -
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
(Clinical Genetics. vol. 101, n° 4, pp. 390-402, 2022-04-01)Article de revueOpen access