Lv1
30 积分 2024-09-26 加入
Gene symbol: ED1. Disease: Ectodermal dysplasia
2天前
求助中
[Whole exome sequencing and analysis of hypohidrotic ectodermal dysplasia patients]
2天前
已完结
Quantitative muscle magnetic resonance imaging in limb‐girdle muscular dystrophy type R1 (LGMDR1): A prospective longitudinal cohort study
3天前
已完结
Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review
17天前
已完结
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
18天前
已完结
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
20天前
已完结
The Many Faces of Glut1 Deficiency Syndrome
23天前
已完结
Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing
25天前
已完结
Human Y Chromosome Deletions in Yq11 and Male Fertility
25天前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
26天前
已完结
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