Lv31
290 积分 2021-07-12 加入
Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype
3天前
已完结
Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism
14天前
已完结
Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations
17天前
已完结
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
1个月前
已关闭
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
1个月前
已完结
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms
1个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
1个月前
已完结
Genetic Testing in the Long QT Syndrome
2个月前
已关闭
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