Recherche
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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
(Journal of Medical Genetics. vol. 60, n° 6, pp. 620-626, 2023-06-01)Article de revue -
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.
(JIMD reports. vol. 64, n° 1, pp. 35-41, 2023-01-01)Article de revueLibre accès -
Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.
(ERJ Open Research. vol. 8, n° 1, 2022-01-01)Article de revueLibre accès -
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
(European Journal of Human Genetics. vol. 30, n° 7, pp. 841-847, 2022-07-01)Article de revue -
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.
(The Journal of clinical investigation. vol. 132, n° 8, 2022-04-15)Article de revueLibre accès -
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
(EBioMedicine. vol. 81, pp. 104130, 2022-07-01)Article de revueLibre accès -
Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.
(vol. 65, n° 10, pp. 104594, 2022-10-01)Article de revue -
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
(American Journal of Medical Genetics Part A. vol. 188, n° 6, pp. 1667-1675, 2022-06-01)Article de revue -
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
(vol. 129, n° 6, pp. 708-718, 2022-06-01)Article de revueLibre accès -
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
(Nature Genetics. vol. 54, n° 6, pp. 906, 2022-06-01)Article de revue