Lv21
160 积分 2025-07-30 加入
[Unexpected discovery of a fetus with DMD gene deletion using single nucleotide polymorphism array]
16天前
已完结
ATP7B variant spectrum in a French pediatric Wilson disease cohort
17天前
已完结
Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia
30天前
已完结
Odontohypophosphatasia caused by a novel combination of two heterozygous variants: a case report
1个月前
已完结
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease
1个月前
已完结
Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis
1个月前
已完结
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies
1个月前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
1个月前
已完结
[Mutation analysis of two pedigrees with suspected oculocutaneous albinism]
1个月前
已完结
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