Lv11
80 积分 2024-12-23 加入
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients
3天前
已完结
Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant
4天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
5天前
已完结
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns
7天前
已完结
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations
10天前
已关闭
Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia
18天前
已关闭
Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene
19天前
已关闭
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
20天前
已完结
Hb Iowa or alpha 2 beta 2(119)(GH2)Gly----Ala
25天前
已完结
Targeted exon sequencing in Usher syndrome type I
28天前
已关闭
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