Lv62
2300 积分 2022-11-01 加入
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1小时前
待确认
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations
1小时前
待确认
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
6天前
已完结
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
7天前
已完结
Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing
12天前
已关闭
Dubin-Johnson Syndrome as Differential Diagnosis for Neonatal Cholestasis
13天前
已完结
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
18天前
已完结
Clinical and Genetic Characteristics of Late-onset Stargardt's Disease
19天前
已完结
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN
19天前
已完结
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
20天前
已关闭
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