Lv64
3030 积分 2021-09-01 加入
[Analysis of large deletion of phenylalanine hydroxylase gene in Chinese patients with phenylketonuria]
2个月前
已完结
Novel dominant-negative mutant of GATA3 in HDR syndrome
2个月前
已完结
孕前及孕早期常见隐性单基因遗传病携带者筛查临床应用专家共识
3个月前
已关闭
KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification
4个月前
已完结
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder
4个月前
已完结
Mitochondrial Disorder: Kearns-Sayre Syndrome
4个月前
已完结
Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants
4个月前
已完结
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene
4个月前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
4个月前
已完结
