Lv11
90 积分 2025-07-09 加入
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
2小时前
已完结
Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome
12天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
16天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
16天前
已完结
[Clinical significance of thiazide-sensitive Na-Cl cotransporter gene by mutational analysis]
1个月前
已关闭
Genetic Analysis of Gitelman Syndrome: Co-existence with Hyperthyroidism in a Two-year-old Boy
1个月前
已完结
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene
1个月前
已完结
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience
1个月前
已完结
Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia
1个月前
已关闭
The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia
1个月前
已关闭
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