Lv1
54 积分 2024-01-09 加入
A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy
7天前
已完结
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis
11天前
已完结
Exome sequencing identification of susceptibility genes in Chinese patients with keratoconus
23天前
已完结
Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families
30天前
已完结
Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation
1个月前
已完结
Major Histocompatibility Complex Class II Deficiency Complicated by Mycobacterium avium Complex in a Boy of Mixed Ethnicity
2个月前
已完结
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
3个月前
已完结
Dominant von Willebrand Disease Type 2M and 2U Are Variable Expressions of One Distinct Disease Entity Caused by Loss-of-Function Mutations in the A1 Domain of the von Willebrand Factor Gene
3个月前
已完结
Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients
3个月前
已完结
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases
3个月前
已关闭
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