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Recherche
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Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Document de travail - Pré-publicationLibre accès
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
(Orphanet Journal of Rare Diseases. vol. 16, n° 1, 2021-08-04)Article de revueLibre accès
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
(Journal of Clinical Endocrinology and Metabolism. vol. 106, n° 2, pp. E660-E674, 2021-10-01)Article de revueLibre accès
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Lack of vaccination in ventilated patients for SARS-CoV-2 in France.
JOANNES-BOYAU, Olivier; DAHYOT-FIZELIER, Claire; NOUETTE-GAULAIN, Karine
(Anaesthesia Critical Care & Pain Medicine. vol. 41, n° 2, pp. 101021, 2022-04-01)Article de revueLibre accès
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Meeting report of the 4th biennial Metabolism and Cancer symposium.
(FEBS Journal. vol. 289, n° 18, pp. 5516-5526, 2022-09-01)Article de revueLibre accès
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Combinatorial pathway disruption is a powerful approach to delineate metabolic impacts of endocrine disruptors.
(FEBS Letters. vol. 596, n° 24, pp. 3107-3123, 2022-12-01)Article de revueLibre accès
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The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.
(Cell Reports. vol. 42, n° 6, pp. 112579, 2023-06-01)Article de revueLibre accès
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Severe phenotype in patients with large deletions of NF1
(Cancers. vol. 13, n° 12, 2021-06-13)Article de revueLibre accès
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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
(American Journal of Medical Genetics Part A. vol. 191, n° 1, pp. 52-63, 2023-01-01)Article de revue