Lv11
54 积分 2024-06-04 加入
Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China
2小时前
待确认
A novel PLS1 c.981+ 1G >A variant causes autosomal‐dominant hereditary hearing loss in a family
3小时前
已完结
产前诊断中地中海贫血--THAI型和HPFH—SEA型的基因检测
1个月前
已完结
Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
2个月前
已完结
[Clinical practice guidelines for Fragile X syndrome]
2个月前
已完结
[A novel GATA4 mutation leading to congenital ventricular septal defect]
3个月前
已完结
VPS13D-related disorders: a severe case, review, and genotype–phenotype correlation
4个月前
已完结
Hematological and genetic profiles of persons with co‐inherited heterozygous β‐thalassemia and supernumerary α‐globin genes
5个月前
已完结
Αlpha-thalassemia: A practical overview
5个月前
已完结
[Expert consensus on the clinical application of Single-Molecule Real-Time Sequencing in the precise prevention and control of Thalassemia (2025 Edition)]
5个月前
已完结
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