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Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I
(Scientific Reports. vol. 11, n° 1, 2021-06-16)Article de revueOpen access -
Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome
(African Health Sciences. vol. 21, n° 2, pp. 960-967, 2021-08-02)Article de revueOpen access -
Proteomic study of low-birth-weight nephropathy in rats
(International Journal of Molecular Sciences. vol. 22, n° 19, 2021-09-24)Article de revueOpen access -
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
(Genes. vol. 13, n° 12, 2022-11-23)Article de revueOpen access -
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 revueOpen access -
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
(American Journal of Medical Genetics Part A. vol. 188, n° 9, pp. 2627-2636, 2022-09)Article de revueOpen access -
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
(neurogenetics. vol. 22, n° 1, pp. 71-79, 2021-01-23)Article de revueOpen access -
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 revueOpen access -
The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
(Genes. vol. 13, n° 7, pp. 1164, 2022-06-27)Article de revueOpen access -
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
(International Journal of Molecular Sciences. vol. 23, n° 3, 2022-02-05)Article de revueOpen access