Lv1
42 积分 2021-11-22 加入
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
1天前
待确认
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
1个月前
已完结
Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia
1个月前
已完结
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study
1个月前
已完结
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting
1个月前
已关闭
Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants
1个月前
已完结
Progression of Low-Frequency Sensorineural Hearing Loss (DFNA6/14-WFS1)
1个月前
已完结
Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease
2个月前
已关闭
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
2个月前
已完结
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta
2个月前
已关闭
皖公网安备34019202002308
