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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 -
Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
(Clinical Genetics. vol. 103, n° 3, pp. 358-363, 2023-03-01)Article de revueLibre acceso -
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.
(JIMD reports. vol. 64, n° 1, pp. 35-41, 2023-01-01)Article de revueLibre acceso -
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
(Investigative Ophthalmology & Visual Science. vol. 64, n° 12, pp. 26, 2023-09-01)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 -
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
(Pigment Cell & Melanoma research, 2023-08-31)Article de revueLibre acceso -
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
(Nature Communications. vol. 14, n° 1, pp. 6067, 2023-09-28)Article de revueLibre acceso -
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 acceso -
ARF1-related disorder: phenotypic and molecular spectrum
(Journal of Medical Genetics. vol. 60, n° 10, pp. 999-1005, 2023-04-25)Article de revueLibre acceso -
A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts.
(Small. pp. 2304082, 2023-09-28)Article de revueLibre acceso