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CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
(European Journal of Medical Genetics. vol. 64, n° 4, 2021-04)Article de revue -
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 -
Evaluation of the template letter regarding the disclosure of genetic information within the family in France
(Journal of Community Genetics. vol. 10, n° 4, pp. 489-, 2019-10)Article de revue -
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 -
Effects of capnometry monitoring during recovery in the post-anaesthesia care unit: a randomized controlled trial in adults (CAPNOSSPI).
(Journal of clinical monitoring, 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 -
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