Lv5
1540 积分 2022-11-01 加入
Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis
7天前
已关闭
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation
7天前
已关闭
Clinical Testing for Mutations in the MEN1 Gene in Sweden: A Report on 200 Unrelated Cases
10天前
已完结
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
15天前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
15天前
已完结
Genetic heterogeneity among blue-cone monochromats
16天前
已关闭
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations
23天前
已完结
Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy
24天前
已关闭
Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene
29天前
已完结
An Evaluation for the Causes of Reduced Hb A2 and the Molecular Characterization of HBD Variants in Hong Kong
29天前
已完结
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