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Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
(BMC Neurology. vol. 22, n° 1, pp. 53, 2022-02-12)Article de revueLibre acceso -
Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
(European Journal of Medical Genetics. vol. 63, n° 4, pp. 103815, 2020)Article de revue -
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