Lv31
260 积分 2022-12-22 加入
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
7小时前
待确认
Analysis of Aberrant Splicing Events and Gene Expression Outliers in Primary Ciliary Dyskinesia
2天前
已完结
Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene
3天前
已完结
Insulin receptor variants: Extending the traditional Mendelian spectrum
5天前
已关闭
DECoN: A Detection and Visualization Tool for Exonic Copy Number Variants
11天前
已完结
Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene
17天前
已完结
Atlas of the clinical genetics of human dilated cardiomyopathy
27天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已完结
A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella
1个月前
已完结
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
1个月前
已完结
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