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Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
(Journal of Medical Genetics. vol. 59, n° 5, pp. 417-427, 2022-05-01)Article de revue -
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
(Investigative Ophthalmology & Visual Science. vol. 63, n° 1, pp. 19, 2022-01-03)Article de revueLibre accès -
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.
(Orphanet Journal of Rare Diseases. vol. 17, n° 1, pp. 448-460, 2022-12-23)Article de revueLibre accès -
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
(Nature Communications. vol. 13, n° 1, pp. 7002, 2022-11-16)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