Lv4
550 积分 2024-11-04 加入
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study
1天前
待确认
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
17天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
17天前
已完结
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia
23天前
已完结
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing
1个月前
已关闭
Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations
1个月前
已关闭
Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations
1个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes
1个月前
已完结
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
1个月前
已完结
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