Lv62
2370 积分 2023-12-05 加入
Mutations in theCOL4A4 and COL4A3 Genes Cause Familial Benign Hematuria
6天前
已完结
Mortality Risk Associated With Truncating Founder Mutations in Titin
12天前
已关闭
Abnormal H3K4 enzyme catalytic activity and neuronal morphology caused by ASH1L mutations in individuals with Tourette syndrome
13天前
已完结
[Clinical and genetic spectrum of SCN2A gene associated epilepsy and episodic ataxia]
14天前
已完结
Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients
17天前
已关闭
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene
1个月前
已完结
Genetic and clinical analysis of Chinese pediatric patients with cystinuria
1个月前
已完结
Atypical presentations of RECQL4‐related syndromes
1个月前
已完结
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
1个月前
已完结
A novel mutation at position +12 in the intron following Exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)
1个月前
已完结
皖公网安备34019202002308
