[Clinical and genetic analysis of a patient with autosomal recessive congenital ichthyosis due to compound heterozygous variants of ALOX12B gene] [0.03%]
ALOX12B基因复合杂合变异所致的常染色体隐性遗传性先天鱼鳞病患者的临床及基因分析
Dan Li,Mei Deng,Phoebe Liao et al.
Dan Li et al.
Objective: To explore the clinical and genetic characteristics of a pediatric patient suspected for Autosomal Recessive Congenital Ichthyosis (ARCI). Meth...
[Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene] [0.03%]
SON基因杂合变异致ZTTK综合征患儿的临床及遗传特征分析
Hongmei Xin,Jianshe Zhao,Yuqiang Lyu et al.
Hongmei Xin et al.
Objective: To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome). ...
[Genetic and clinical analysis of KIF2A gene variant in a Chinese patient with complex cortical dysplasia and other brain malformations] [0.03%]
KIF2A基因变异在中国复杂皮质发育不良和其他脑畸形患者中的遗传和临床分析
Shuangxi Cheng,Qingming Wang,Xiaochun Hong et al.
Shuangxi Cheng et al.
Objective: To explore the genetic basis for a child featuring complex cortical dysplasia and other brain malformations (CDCBM3). Methods: ...
[Analysis of CASR gene variant in a child with idiopathic epilepsy and autism] [0.03%]
CACNA1H基因变异在自身免疫性脑炎患儿中的研究
Junjie Ning,Lina Qiao
Junjie Ning
Objective: To explore the genetic basis for a child featuring idiopathic epilepsy and autism. Methods: Peripheral blood samples of the ...
[Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Usher syndrome due to novel compound heterozygous variants of PCDH15 gene] [0.03%]
PCDH15基因新复合杂合变异导致的中国Usher综合征家系的遗传分析及产前诊断
Ke Yang,Yuwei Zhang,Guiyu Lou et al.
Ke Yang et al.
Objective: To analyze the clinical features and genetic variant in a patient with Usher syndrome. Methods: Whole exome sequencing was c...
[Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7] [0.03%]
TUBB2B基因变异致复合型皮质发育不良综合征胎儿畸形1例分析
Lulu Yan,Zhaier Lu,Yingwen Liu et al.
Lulu Yan et al.
Objective: To explore the genetic basis for a fetus with dysgenesis of corpus callosum and other brain malformations. Methods: Whole ex...
[Whole exome sequencing analysis of a patient with 45,X/46,XY mosaicism and autism spectrum disorder] [0.03%]
整倍体芯片检测结合外显子组测序技术分析一例45,X/46,XY嵌合体合并自闭症患者
Danfeng Yuan,Jian Jiao,Manxue Zhang et al.
Danfeng Yuan et al.
Objective: To carry out genetic testing for a patient with 45,X/46,XY mosaicism and autism spectrum disorder (ASD). Methods: Peripheral...
[Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22] [0.03%]
ZBTB18基因变异所致22号染色体显性遗传精神发育迟滞综合征一例临床分析
Jia Zhang,Yang Li,Huan Luo et al.
Jia Zhang et al.
Objective: To analyze the clinical characteristics and ZBTB18 gene variant in a child with epilepsy and global developmental delay. Methods: ...
[Association of miR-146a rs2910164 G/C polymorphism with its abnormal expression and risk of gastric cancer] [0.03%]
[miR-146ars2910164G/C多态性与胃癌易感及表达异常的相关性研究]
Linlin Liang,Ai Mai,Jiazhen Zhou et al.
Linlin Liang et al.
Objective: To assess the influence of rs2910164 G/C single nucleotide polymorphism (SNP) of the miR-146a gene on its expression and susceptibility to gastric cancer. ...
[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome] [0.03%]
ARID1B基因变异在中国科芬-西里斯综合征家系中的分析
Yanbao Xiang,Ru Wan,Huanzheng Li et al.
Yanbao Xiang et al.
Objective: To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS). Methods: Whole exome seque...