Lv2
130 积分 2024-05-16 加入
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
17小时前
已完结
Dominant dystrophic epidermolysis bullosa with COL7A1 variant confirmed by whole-exome sequencing in a Chinese family and genotype-phenotype correlation analysis
1天前
求助中
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
1天前
求助中
Genetic Profiling of Epidermolysis Bullosa in a Large Brazilian Cohort
2天前
已完结
A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen
4天前
求助中
DifferentTGM1mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal
4天前
已完结
Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome
4天前
已关闭
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
5天前
已关闭
Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity
5天前
已关闭
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance
8天前
已完结
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