Lv51
840 积分 2023-01-11 加入
NF1 alterations in cancers: therapeutic implications in precision medicine
4小时前
已完结
Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis
8天前
已完结
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus
17天前
已完结
Thalassaemia in China
19天前
已完结
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome
20天前
已完结
Mitochondria and mitochondrial disorders: an overview update
21天前
已关闭
Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene
1个月前
已完结
Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry
2个月前
已完结
Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients
4个月前
已完结
Extending the phenotype of Shashi–Pena syndrome: a case report and review of literature
4个月前
已完结
皖公网安备34019202002308
