Lv4
790 积分 2021-12-17 加入
CFTR Exon 10 deleterious mutations in patients with congenital bilateral absence of vas deferens in a cohort of Pakistani patients
1个月前
已完结
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients
1个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
2个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
2个月前
已完结
Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
2个月前
已完结
Newborn screening for inborn errors of metabolism in a northern Chinese population
4个月前
已完结
[Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review]
5个月前
已完结
Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas
7个月前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
7个月前
已关闭
Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series
10个月前
已完结
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