[Genetic testing and reproductive intervention for 210 Chinese pedigrees affected with Hemophilia] [0.03%]
中国210个血友病家系的基因检测及生殖干预措施
Yi Zhang,Xiao Hu,Jing Dai et al.
Yi Zhang et al.
Objective: To explore the genetic etiology of 210 Chinese pedigrees affected with Hemophilia and provide prenatal diagnosis and preimplantation genetic testing (PGT) for them. ...
[Prenatal genetic analyses for a woman with a rare cryptic reciprocal insertional balanced translocation] [0.03%]
罕见隐匿性互易插入平衡易位携带者孕妇的产前基因分析
Weiguo Zhang,Meiying Zhou,Mengxue Wu et al.
Weiguo Zhang et al.
Objective: To explore the genetic characteristics of a rare pedigree with maternal cryptic reciprocal insertional balanced translocation in order to provide genetic counseling and prenatal diagnosis. ...
[Molecular mechanism underlying an individual with with Ael subtype due to a novel p.Tyr264Cys variant of α-1, 3-N-acetylgalactosaminotransferase gene] [0.03%]
新型α-1，3-N-乙酰半乳糖胺转移酶基因p.Tyr264Cys变异导致Ael型血友病的分子机制研究
Yunlei He,Lu Yu,Di Niu et al.
Yunlei He et al.
Objective: To explore the molecular mechanism underlying a novel Ael subtype due to a p.Tyr264Cys variant of the α-1, 3-N-acetylgalactosaminotransferase gene. ...
[Clinical characteristics and genetic analysis of three fetuses with Baraitser-Winter cerebrofrontofacial syndrome and Dystonia-deafness syndrome type 1 due to variants of ACTB gene] [0.03%]
ACTB基因变异导致的3例巴雷特-温恩脑额面综合征和 dystonia-耳聋综合征1型临床及遗传特征分析
Yuxin Zhang,Chunxiao Han,Lulu Yan et al.
Yuxin Zhang et al.
Objective: To study the clinical and genetic characteristics of three fetuses with Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) and Dystonia-deafness syndrome type 1 (DDS1) due to variants of the β-actin (ACTB) ...
[Genetic analysis of a boy with congenital variant Rett syndrome due to a novel variant of FOXG1 gene and literature review] [0.03%]
新型FOXG1基因变异所致先天性雷特综合征变异型1例及其文献复习
Xin Li,Rong Qiang,Lin Wang et al.
Xin Li et al.
Objective: To explore the clinical manifestations and genetic etiology of a boy with congenital variant Rett syndrome (RTT). Methods: A...
[Clinical and genetic analysis of a patient with Alström syndrome presenting with paroxysmal palpitations] [0.03%]
Alström综合征误诊为特发性阵发性室上性心动过速1例的临床及基因分析
Yanzhi Liu,Xiaofeng Li,Chi Cai et al.
Yanzhi Liu et al.
Objective: To investigate the clinical features and genetic etiology of a patient with Alström syndrome (ALMS) who presented with paroxysmal palpitations. ...
[Clinical and genetic characterization of two Chinese children with Diencephalo-mesencephalic junction dysplasia syndrome type 1 due to compound heterozygous variants of PCDH12 gene] [0.03%]
两个中国PCDH12基因复合杂合突变的Diencephalo- mesencephalic junction dysplasia综合征患儿的临床及基因表型特征分析
Xiaoyan Xuan,Xiaoke Zhao,Hu Guo
Xiaoyan Xuan
Objective: To investigate the genetic etiology of two pediatric patients presenting with developmental delay and microcephaly. Methods: ...
[Analysis of a Chinese pedigree affected with Hereditary factor Ⅴ deficiency due to compound heterozygous variants of F5 gene] [0.03%]
中国F5基因复合杂合突变所致遗传性因子Ⅴ缺乏症家系分析
Yujie Feng,Xiaoli Cheng,Jiayun Liu et al.
Yujie Feng et al.
Objective: To analyze the clinical characteristics and causative variation sites in a pedigree with hereditary coagulation factor Ⅴ (FⅤ) deficiency. Met...
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Spastic paraplegia type 56 due to variants of CYP2U1 gene] [0.03%]
CYP2U1基因变异导致的遗传性第五十六型脊髓性共济失调家系的基因分析及产前诊断
Qimeng Liu,Chunxiao Hua,Kairun Li et al.
Qimeng Liu et al.
Objective: To explore the genetic etiology for a Chinese family affected with Spastic paraplegia type 56 (SPG56). Methods: Clinical dat...
[Susceptibility to seizures and expression of fibroblast growth factor 17 in rats with Cortical dysplasia and its effects on the hippocampal neurons] [0.03%]
皮层发育不良大鼠致痫敏感性及成纤维细胞生长因子17表达变化对其海马神经元的影响
Tiantian Liu,Hengfang Liu,Yanjie Jia
Tiantian Liu
Objective: To assess the susceptibility to seizures, expression of fibroblast growth factor 17 (Fgf17) in rats with Cortical dysplasia (CD), and its effect on hippocampal neurons. ...