Recherche
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Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
(Brain and Development. vol. 44, n° 8, pp. 567-570, 2022-09-01)Article de revue -
The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
(Genes. vol. 13, n° 7, pp. 1164, 2022-06-27)Article de revueLibre accès -
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
(American Journal of Human Genetics. vol. 110, n° 6, pp. 998-1007, 2023-06-01)Article de revue -
L-asparaginase anti-tumor activity in pancreatic cancer is dependent on its glutaminase activity and resistance is mediated by glutamine synthetase
(Experimental Cell Research. vol. 426, n° 2, pp. 113568, 2023-05-15)Article de revue -
Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: the inflammasome hypothesis.
(AIDS. Official journal of the international AIDS Society. vol. 37, n° 7, pp. 1035-1046, 2023-06-01)Article de revue -
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
(Nature Genetics. vol. 54, n° 3, pp. 232-239, 2022-03-01)Article de revueLibre accès -
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
(Nature Communications. vol. 13, n° 1, pp. 3939, 2022-07-08)Article de revueLibre accès -
First clinical description of a pedigree with complete NAF1 deletion
(Leukemia & lymphoma. vol. 64, n° 2, pp. 487-490, 2023-02-01)Article de revue -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
(Molecular Psychiatry. vol. 28, n° 2, pp. 668-697, 2023-02-01)Article de revueLibre accès -
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 accès