Lv53
896 积分 2023-10-26 加入
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
2小时前
已完结
COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa
2小时前
已完结
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1
3小时前
已完结
ACTH receptor mutation in a girl with familial glucocorticoid deficiency
1天前
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Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
2天前
已完结
Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain
2天前
已完结
Mutations of the RET proto-oncogene in Hirschsprung's disease
2天前
已完结
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]
2天前
已完结
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing
11天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
11天前
已关闭
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