Navigation Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 par Etablissement "INSERM"
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Etude génétique et fonctionnelle de l’ataxie spastique autosomique récessive de Charlevoix-Saguenay (ARSACS)
(Bordeaux, 2014-11-27)Thèses de doctorat -
Identification des contaminants environnementaux agissant comme obésogènes en utilisant les larves de poisson zèbre comme modèle
(Bordeaux, 2022-12-02)Thèses de doctorat -
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 -
Régulation du métabolisme énergétique : étude du remodelage bioénergétique du cancer
(Bordeaux, 2014-12-12)Thèses de doctorat -
Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I
(Scientific Reports. vol. 11, n° 1, 2021-06-16)Article de revueLibre accès -
Evidence of mosaicism in SPAST variant carriers in four French families
(European Journal of Human Genetics. vol. 29, n° 7, pp. 1158-1163, 2021-05-06)Article de revue -
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
(Clinical Genetics. vol. 99, n° 5, pp. 650-661, 2021-01-07)Article de revue -
Re-focusing on Agnathia-Otocephaly complex
(Clinical Oral Investigations. vol. 25, n° 3, pp. 1353-1362, 2021)Article de revue -
Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited
(Journal of Neurology, Neurosurgery and Psychiatry. vol. 92, n° 1, 2021)Article de revue -
A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity
(Communications Biology. vol. 4, n° 1, 2021-02-16)Article de revueLibre accès -
Albinism: An Underdiagnosed Condition.
(Journal of Investigative Dermatology. vol. 140, n° 7, pp. 1449-1451, 2020-07-01)Article de revue -
Clinical variability and probable founder effect in oculocutaneous albinism type 7.
(Clinical Genetics. vol. 97, n° 3, pp. 527-528, 2020-03-01)Article de revue -
Management of albinism: French guidelines for diagnosis and care
(Journal of the European Academy of Dermatology and Venereology. vol. 35, n° 7, pp. 1449-1459, 2021-05-27)Article de revue -
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 -
Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome
(African Health Sciences. vol. 21, n° 2, pp. 960-967, 2021-08-02)Article de revueLibre accès -
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 -
Proteomic study of low-birth-weight nephropathy in rats
(International Journal of Molecular Sciences. vol. 22, n° 19, 2021-09-24)Article de revueLibre accès