Lv1
68 积分 2022-03-11 加入
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
17小时前
待确认
Spectrum of Mutations in Gitelman Syndrome
21天前
已关闭
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
26天前
已完结
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
1个月前
已完结
Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism
1个月前
已完结
Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review
1个月前
已完结
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia
1个月前
已完结
Acute Viral Myocarditis in a Young Woman
1个月前
已关闭
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A
1个月前
已完结
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
2个月前
已完结
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