Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por institución "INSERM"
Mostrando ítems 1-20 de 164
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Dépistage génétique néonatal: à propos du programme pilote sur l'amyotrophie spinale (DEPISMA)
LACOMBE, Didier
; CALMELS, Nadège; ANDRE, Carole ...
(Bulletin de l'Academie Nationale de Medecine. vol. 208, n° 1, pp. 86 – 94, 2024-01)Article de revue -
Etude génétique et fonctionnelle de l’ataxie spastique autosomique récessive de Charlevoix-Saguenay (ARSACS)
(Bordeaux, 2014-11-27)Thèses de doctorat -
Histologie et réseaux sociaux
(Morphologie. vol. 108, n° 363, pp. 100795, 2024-12)Article de revue -
Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal
(Gynécologie Obstétrique Fertilité & Sénologie. vol. 51, n° 7-8, pp. 367-371, 2023-07-08)Article de revue -
Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)
(Therapie. vol. 79, n° 6, pp. 709-717, 2024-06-05)Article de revueLibre acceso
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Régulation du métabolisme énergétique : étude du remodelage bioénergétique du cancer
(Bordeaux, 2014-12-12)Thèses de doctorat -
The phenotypic spectrum of CEP250 gene variants
(Ophthalmic Genetics. pp. 1-8, 2024-11-28)Article de revue -
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Document de travail - Pré-publicationLibre acceso
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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 acceso
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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 acceso
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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 acceso
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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 acceso
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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 acceso
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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 acceso
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Severe phenotype in patients with large deletions of NF1
(Cancers. vol. 13, n° 12, 2021-06-13)Article de revueLibre acceso
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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 -
A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts.
(Small. pp. 2304082, 2023-09-28)Article de revueLibre acceso
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Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
(Journal of Clinical Medicine. vol. 11, n° 5, pp. 1233, 2022-02-24)Article de revueLibre acceso