Lv41
590 积分 2026-04-13 加入
Best-corrected visual acuity results facilitate molecular diagnosis of infantile nystagmus patients harboring FRMD7 mutations
6小时前
待确认
Best-corrected visual acuity results facilitate molecular diagnosis of infantile nystagmus patients harboring FRMD7 mutations
6小时前
待确认
新生儿高甲硫氨酸血症串联质谱筛查结果及MAT1A基因突变分析
3天前
已完结
[Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome]
6天前
已完结
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy
7天前
已完结
A case report of adult type 2 familial hemophagocytic lymphohistiocytosis
7天前
已完结
Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation
17天前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
17天前
已完结
Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss
17天前
已完结
Spectrum of Mutations in Gitelman Syndrome
1个月前
已关闭
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