Lv55
1040 积分 2023-07-23 加入
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China
1小时前
已完结
Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype
2小时前
求助中
There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome
5小时前
已完结
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families
3天前
求助中
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings
7天前
已完结
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
8天前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
10天前
已完结
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification
13天前
已完结
A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy
20天前
已完结
Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree
20天前
已完结
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