Lv63
1650 积分 2025-05-21 加入
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
2小时前
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Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
9天前
已完结
线粒体DNA耗竭综合征12例临床表型及基因型特点
1个月前
已完结
55例6-丙酮酰四氢蝶呤合成酶缺乏症基因突变分析
1个月前
已完结
Mutational analysis of patients with 6-pyravoyltetrahydrobiopterin synthesis deficiency
1个月前
已完结
Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience
1个月前
已完结
丙酸血症患儿PCCA和PCCB基因突变分析
2个月前
已完结
Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia
2个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
2个月前
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