Lv3
290 积分 2024-02-26 加入
Molecular genetics of maple syrup urine disease in the Turkish population
3天前
已完结
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening
15天前
已完结
Genotype-Phenotype Correlation of Distal 2q37 Deletions
17天前
已完结
Macular and optic nerve hypoplasia in chromosome 2p partial trisomy
23天前
已完结
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
25天前
已完结
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders
25天前
已完结
Pedigree Analysis of Families and Patients Affected by Retinitis Pigmentosa
29天前
已完结
A familial rearrangement resulting in pure duplication of distal 19p13.3
1个月前
已完结
Unilateral lattice corneal dystrophy with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta induced gene: a case report
1个月前
已完结
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases
2个月前
已完结
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