Lv33
260 积分 2025-07-30 加入
Prevalence of four Mendelian disorders associated with autism in 2392 affected families
1天前
已完结
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience
29天前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
1个月前
已完结
[Clinical analysis of seven cases with primary hyperoxaluria type 1 in children]
1个月前
已完结
[Unexpected discovery of a fetus with DMD gene deletion using single nucleotide polymorphism array]
2个月前
已完结
ATP7B variant spectrum in a French pediatric Wilson disease cohort
2个月前
已完结
Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia
2个月前
已完结
Odontohypophosphatasia caused by a novel combination of two heterozygous variants: a case report
2个月前
已完结
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease
3个月前
已完结
Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis
3个月前
已完结
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