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Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study
(Clinical Kidney Journal. vol. 16, n° 1, pp. 100-110, 2023-01)Article de revueLibre acceso -
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
(Movement Disorders. vol. 38, n° 11, pp. 2103-2115, 2023-11-01)Article de revueLibre acceso -
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 revueLibre acceso