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70 积分 2023-09-26 加入
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study
7天前
已完结
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
16天前
已完结
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
18天前
已完结
De novo LMNA mutations cause a new form of congenital muscular dystrophy
22天前
已关闭
Functional significance of mutations in the Snf2 domain of ATRX
22天前
已完结
De novo LMNA mutations cause a new form of congenital muscular dystrophy
23天前
已关闭
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
25天前
已完结
Functional significance of mutations in the Snf2 domain of ATRX
1个月前
已完结
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
1个月前
已完结
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