Lv1
48 积分 2023-04-04 加入
Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China
1个月前
已完结
The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series
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
Characteristics and Prognosis of Patients With Non‐Syndromic Sensorineural Hearing Loss Associated With Myo15a Mutations
1个月前
已完结
Clinical Exome Sequencing Identifies, Two Homozygous LOXHD1 Variants in Two Inbred Families With Pre-Lingual Hearing Loss From South India
1个月前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
1个月前
已完结
Clinical and molecular findings in children with retinitis pigmentosa
2个月前
已完结
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease
2个月前
已完结
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
2个月前
已完结
Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia
3个月前
已关闭
皖公网安备34019202002308
