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European Journal of Human Genetics : EJHG|April 3, 2023
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerationsAshraf Yahia, Ahlam A A Hamed, Inaam N Mohamed, et al.Nature Medicine|January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.Pageof 19