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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 revueOpen access -
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 revueOpen access -
ARF1-related disorder: phenotypic and molecular spectrum
(Journal of Medical Genetics. vol. 60, n° 10, pp. 999-1005, 2023-04-25)Article de revueOpen access -
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
(Biochimica et Biophysica Acta - Molecular Basis of Disease. vol. 1870, n° 1, pp. 166856, 2023-08-26)Article de revue -
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
(American Journal of Medical Genetics Part A. vol. 191, n° 1, pp. 52-63, 2023-01-01)Article de revue -
A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts.
(Small. pp. 2304082, 2023-09-28)Article de revueOpen access -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue -
The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.
(Cell Reports. vol. 42, n° 6, pp. 112579, 2023-06-01)Article de revueOpen access -
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
(vol. 58, n° 3, pp. 295-302, 2023-03-01)Article de revueOpen access