Lv3
394 积分 2024-08-07 加入
Identification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations
7天前
已完结
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome
14天前
已完结
An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis
14天前
已完结
Severe parental phenotype associates with hypertension in children with ADPKD
25天前
已完结
Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants
1个月前
已完结
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy
1个月前
已完结
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity
1个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
2个月前
已关闭
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia
2个月前
已完结
Nationwide, Couple-Based Genetic Carrier Screening
2个月前
已完结
皖公网安备34019202002308
