Lv21
180 积分 2025-08-27 加入
Genetic analysis of autosomal dominant polycystic kidney disease in Iranian families: a combined Sanger and next-generation sequencing study
21天前
已完结
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels
1个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
2个月前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
2个月前
已完结
Molecular study of patients with odontohypophosphatasia resulting from missense mutation in ALPL
2个月前
已完结
Further survey of genetic variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found in an updated database of genome resources and identified by phenotyping for trimethylaminuria
2个月前
已完结
Cerebral white matter abnormalities associated with chromosome 18q duplication
2个月前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
2个月前
已完结
MCAD deficiency in Denmark
2个月前
已完结
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