Lv11
50 积分 2025-07-28 加入
Genetic characterization of DDX11 variants identified in a Chinese family with Warsaw breakage syndrome
3小时前
已完结
Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
2天前
已完结
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
8天前
已完结
Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene
1个月前
已关闭
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
1个月前
已完结
Genetic basis of human complement C8 alpha-gamma deficiency
2个月前
已关闭
The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development
2个月前
已完结
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients
2个月前
已完结
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population
6个月前
已完结
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