BMC Medical Genetics

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome.

Characterization of an N-terminal Na(v)1.5 channel variant - a potential risk factor for arrhythmias and sudden death?

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia

在一个患有遗传性痉挛性截瘫的中国家族中发现一种新的 SPAST 基因突变

Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

一名患有 NAA10 功能障碍和新型杂合新生 NAA10 p.(His16Pro) 变异的女孩出现严重的综合征性 ID 和偏斜的 X 失活 - 病例报告

Assessment of cellular cobalamin metabolism in Gaucher disease

戈谢病细胞钴胺素代谢评估

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

幸存男性的梅干腹综合征可能是由 X 连锁细丝蛋白 A 基因的半合错义突变引起的

Identification and analysis of KLF13 variants in patients with congenital heart disease

先天性心脏病患者 KLF13 变异的鉴定与分析

Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia

病例报告：中国丙酸血症患者 PCCA 和 PCCB 基因出现三种新变异