[Genetic analysis of a Chinese pedigree affected with Epidermolysis bullosa simplex due to a novel variant of KRT5 gene] [0.03%]
[KRT5基因新变异导致的单纯性大疱性表皮松解症家系的基因分析]
Shaoguang Lyu,Fang Liu,Zhifang Du et al.
Shaoguang Lyu et al.
Objective: To investigate the clinical characteristics and genetic etiology of eight members from a pedigree affected with epidermolysis bullosa (EB). Met...
[Clinical and genetic analysis of a Chinese pedigree affected with Vissers-Bodmer syndrome due to variant of CNOT1 gene and a literature review] [0.03%]
CNOT1基因突变所致Vissers-Bodmer综合征1例临床及遗传特征分析并文献复习
Yake Jiao,Shuhua Yuan,Yongzhen Xue et al.
Yake Jiao et al.
Objective: To investigate the clinical and genetic characteristics of a family with Vissers-Bodmer Syndrome (VIBOS) and to review the relevant literature on VIBOS caused by CNOT1 gene variants. ...
[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review] [0.03%]
DKC1基因新突变导致的X-连锁霍耶拉尔-赫瑞达松综合征患儿临床及基因分析并文献复习
Yuhui You,Dongqing Han,Wenjing Liu et al.
Yuhui You et al.
Objective: To explore the clinical features and genetic etiology of a child with Hoyeraal-Hreidarsson syndrome (HHS). Methods: A child ...
[Clinical and genetic analysis of a child with intellectual developmental disorder and seizures associated with variant of AP2M1 gene] [0.03%]
AP2M1基因变异相关智力障碍和癫痫家系的临床及遗传特征分析
Manman Chu,Mengyue Wang,Jiayang Xie et al.
Manman Chu et al.
Objective: To explore the clinical and genetic characteristics of a child with intellectual development disorder and seizures due to a variant of AP2M1 gene. ...
[Report of a Chinese pedigree affected with Neurodevelopmental disorder with absent language and variable seizures due to variant of WASF1 gene and a literature review] [0.03%]
WASF1基因变异所致神经发育障碍伴语言缺失和可变性癫痫的中国家系报告及文献复习
Yang Xiu,Yongzhen Xue,Kai Liu et al.
Yang Xiu et al.
Objective: To investigate the clinical and genetic characteristics of a Chinese pedigree affected with Neurodevelopmental disorder with absent language and variable seizures (NEDALVS) due to variant of WASF1 gene, and to ...
[Clinical characterization and genetic analysis of two Chinese patients with Cowden syndrome due to variants of PTEN gene] [0.03%]
PTEN基因变异中国Cowden综合征患者临床特征及遗传分析
Yuan Yuan,Jin Liu,Dongjuan Song et al.
Yuan Yuan et al.
Objective: To explore the clinical features and genetic etiology of two Chinese patients with Cowden syndrome (CS). Methods: Two patien...
[Prenatal diagnosis and genetic analysis of four fetuses with Uniparental disomy] [0.03%]
[四个嵌合型单亲二倍体胎儿的产前诊断及遗传学分析]
Lili Zhou,Yunzhi Xu,Yuan Yu et al.
Lili Zhou et al.
Objective: To explore the genetic etiology of four fetuses with Uniparental disomy (UPD), and analyze their causes. Methods: Four fetus...
[Pathogenicity analysis and genetic counseling for a hemizygous c.1042-10G>C variant of SLC9A7 gene] [0.03%]
SLC9A7基因杂合c.1042-10G>C变异致病性分析及遗传咨询
Jingyuan Wang,Jia Huang,Hongjie Zhu et al.
Jingyuan Wang et al.
Objective: To evaluate the clinical significance of a hemizygous c.1042-10G>C variant of the SLC9A7 gene NM_001257291.2) previously identified in individuals with neurodevelopmental disorders, and to provide an evidence-b...
[Genetic analysis of four children with CHARGE syndrome and a literature review] [0.03%]
CHARGE综合征四例患儿的临床与基因分析及文献复习
Tianci Hu,Lan Ye,Jinhui Wang
Tianci Hu
Objective: To analyze the clinical phenotype and genetic basis of four children with CHARGE syndrome. Methods: A retrospective analysis...
[Application of multi-technique in combined for the detection and prenatal diagnosis of families affected with Duchenne muscular dystrophy] [0.03%]
多种技术联合应用于杜氏肌营养不良症家系的检测及产前诊断
Xue Zhang,Ya&#x;na Zhang,Ziye Zeng et al.
Xue Zhang et al.
Objective: To assess the value of combined detection strategies using multiple technologies for the genetic testing and prenatal diagnosis for pedigrees affected with Duchenne muscular dystrophy (DMD) for optimizing genet...