Recherche
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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 -
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 -
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 -
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
(Clinical Genetics. vol. 100, n° 4, pp. 468-477, 2021-07-01)Article de revue -
Dopachrome tautomerase variants in patients with oculocutaneous albinism
(Genetics in Medicine. vol. 23, n° 3, pp. 479-487, 2021)Article de revue -
Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.
(Genetics in Medicine. vol. 23, n° 10, pp. 2003-2004, 2021-06-02)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)Article de revue