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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
(Journal of Medical Genetics. vol. 60, n° 6, pp. 620-626, 2023-06-01)Article de revue -
Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.
(ERJ Open Research. vol. 8, n° 1, 2022-01-01)Article de revueLibre accès -
Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies.
(Cells. vol. 12, n° 2, pp. 337, 2023-01-16)Article de revueLibre accès -
A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts.
(Small. pp. 2304082, 2023-09-28)Article de revueLibre accès -
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 revueLibre accès