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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 -
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
(European Journal of Human Genetics. vol. 30, n° 6, pp. 682-686, 2022-06-01)Article de revue -
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
(Movement Disorders. vol. 38, n° 11, pp. 2103-2115, 2023-11-01)Article de revueLibre accès -
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
(Nature Communications. vol. 14, n° 1, pp. 6067, 2023-09-28)Article de revueLibre accès -
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 -
Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies.
(Cells. vol. 12, n° 2, pp. 337, 2023-01-16)Article de revueLibre accès -
ARF1-related disorder: phenotypic and molecular spectrum
(Journal of Medical Genetics. vol. 60, n° 10, pp. 999-1005, 2023-04-25)Article de revueLibre accès