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Effects of OP2113 on Myocardial Infarct Size and No Reflow in a Rat Myocardial Ischemia/Reperfusion Model
(Cardiovascular Drugs and Therapy, 2022-04)Article de revue -
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
(Genes. vol. 13, n° 12, 2022-11-23)Article de revueLibre acceso -
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
(American Journal of Medical Genetics Part A. vol. 188, n° 9, pp. 2627-2636, 2022-09)Article de revueLibre acceso -
The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
(Genes. vol. 13, n° 7, pp. 1164, 2022-06-27)Article de revueLibre acceso -
Lung Tumor Growth Promotion by Tobacco-Specific Nitrosamines Involves the β2-Adrenergic Receptors-Dependent Stimulation of Mitochondrial REDOX Signaling.
(Antioxidants and Redox Signaling. vol. 36, n° 7-9, pp. 525-549, 2022-03-01)Article de revue -
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
(International Journal of Molecular Sciences. vol. 23, n° 3, 2022-02-05)Article de revueLibre acceso -
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
(Nature Communications. vol. 13, n° 1, pp. 3939, 2022-07-08)Article de revueLibre acceso -
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 acceso -
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 acceso