Lv34
270 积分 2021-11-01 加入
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
9小时前
待确认
Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea
1天前
已完结
Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
2天前
已完结
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
8天前
已完结
Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report
13天前
已完结
Population Genomic Screening for Three Common Hereditary Conditions
1年前
已完结
Spectrum mutations of PRF1 , UNC13D , STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
2年前
已完结
拷贝数变异检测在产前诊断中的应用指南
2年前
已完结
[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology]
2年前
已完结
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