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30 积分 2024-12-02 加入
Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells
1天前
已完结
Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia
1天前
已完结
Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells
3天前
已完结
Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients
4天前
求助中
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han
5天前
已完结
Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells
11天前
已完结
甲基丙二酸血症cblA型12例分析
1个月前
已完结
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia
1个月前
已完结
[Analysis of genomic copy number variation for a Chinese patient with split hand/split foot malformation]
2个月前
已完结
[Genetic analysis of a pedigree affected with congenital split-hand/foot malformation]
2个月前
已完结
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