Lv31
388 积分 2023-08-15 加入
Genetic features and kidney morphological changes in women with X-linked Alport syndrome
7小时前
待确认
Genotype–phenotype correlation in children with hereditary spherocytosis
9天前
已完结
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP: Figure 1
16天前
已完结
Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
1个月前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
1个月前
已完结
Genotype-phenotype correlations in Polish patients with hypertrophic cardiomyopathy: Preliminary report
1个月前
已关闭
Genotype-phenotype correlations in Polish patients with hypertrophic cardiomyopathy: Preliminary report
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2个月前
已完结
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome
2个月前
已关闭
[Asp-190-Tyr mutation in the rhodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis]
2个月前
已关闭
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