健康科学学院(Faculty of Health Science) 医学系(School of Medicine): 医学(12个领域) (Medicine) 医学(27个领域) (Medicine) 医学(Medical Science) 公共健康 (Community Health) 家庭医学 (Family Medicine) 健康专业教育 (Health Professions Education) 外科医学 (Medicine and Surgery) 内科学 心脏医学系(Dep...
健康科学学院(Faculty of Health Science) 医学系(School of Medicine): 医学(12个领域) (Medicine) 医学(27个领域) (Medicine) 医学(Medical Science) 公共健康 (Community Health) 家庭医学 (Family Medicine) 健康专业教育 (Health Professions Education) 外科医学 (Medicine and Surgery) 内科学 心脏医学系(Dep...
van Rooyen, Francois C.Department of Biostatistics, School of Biomedical Sciences, Faculty of Health Sciences, University of the Free State, Bloemfontein, South AfricaSpringer USMedical Science Educator
We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant ...