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A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
(Human Genetics. vol. 140, n° 6, pp. 933-944, 2021)Article de revue -
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)
(European Journal of Human Genetics. vol. 29, n° 9, pp. 1470-1471, 2021-07-15)Article de revue -
Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study
(European Journal of Medical Genetics. vol. 64, n° 10, 2021-10)Article de revue -
Proteomic study of low-birth-weight nephropathy in rats
(International Journal of Molecular Sciences. vol. 22, n° 19, 2021-09-24)Article de revueLibre accès -
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas
(Journal of Clinical Investigation. vol. 131, n° 1, 2021-01-04)Article de revue -
Effects of OP2113 on Myocardial Infarct Size and No Reflow in a Rat Myocardial Ischemia/Reperfusion Model
(Cardiovascular Drugs and Therapy, 2022-04)Article de revue -
Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2
(Science Immunology. vol. 6, n° 61, 2021-07-30)Article de revue -
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
(Genes. vol. 13, n° 12, 2022-11-23)Article de revueLibre accès -
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.
(Platelets. vol. 32, n° 3, pp. 420-423, 2021-04-03)Article de revue -
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 revueLibre accès