Lv68
2170 积分 2023-11-07 加入
Thyroid hormone resistance: Mechanisms and therapeutic development
26天前
已完结
[Identification of eight new mutations in the c-erbAB gene of patients with resistance to thyroid hormone]
26天前
已关闭
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
30天前
已完结
Gene analysis and clinical features of 22 GNE myopathy patients
1个月前
已完结
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
1个月前
已完结
[In vitro expression study of novel mutations in phenylalanine hydroxylase gene]
1个月前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
1个月前
已关闭
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
2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
2个月前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
2个月前
已完结
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