Lv63
2060 积分 2024-05-20 加入
Functional Characteristics and Tissue Distribution Pattern of Organic Cation Transporter 2 (OCTN2), an Organic Cation/Carnitine Transporter
8天前
已关闭
Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dubé syndrome
27天前
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A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa
1个月前
已完结
Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy
1个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
1个月前
已完结
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
1个月前
已完结
Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases
2个月前
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Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia
2个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
2个月前
已关闭