[Analysis of a child with You-Hoover-Fong syndrome due to compound heterozygous variants of the TELO2 gene and a literature review] [0.03%]
YOU-胡佛-冯综合征复合杂合变异TELO2基因患儿1例及文献复习
Pei Li,Yanru Huang,Yixi Zhou et al.
Pei Li et al.
Objective: To analyze the clinical manifestations and genotype of a child with You-Hoover-Fong syndrome (YHFS) to enhance clinical understanding of this disease. ...
[Analysis of DNAH11 gene variants and clinical characteristics of a Chinese pedigree affected with Primary ciliary dyskinesia] [0.03%]
DNAH11基因变异及中国原发纤毛运动障碍家系临床特征分析
Xiaodong Wang,Ying Xu,Lan Jiang et al.
Xiaodong Wang et al.
Objective: To explore the genetic etiology of a Chinese pedigree affected with Primary ciliary dyskinesia (PCD). Methods: A child who p...
[Genetic re-analysis of a Chinese pedigree affected with Hypertrophic cardiomyopathy due to a heterozygous truncating variant of ALPK3 gene and literature review] [0.03%]
中国肥厚型心肌病患者ALPK3基因杂合截断突变家系的再分析及文献复习
Chenliang Hong,Xianhong Ding,Yang Lu et al.
Chenliang Hong et al.
Objective: To explore the clinical and genetic characteristics of a Chinese pedigree affected with Hypertrophic cardiomyopathy (HCM) due to a truncating variant of ALPK3 gene. ...
[Clinical and genetic analysis of a Chinese pedigree affected with Hereditary dentin dysplasia type II due to a variant of DSPP gene] [0.03%]
DSPP基因突变引起的遗传性牙本质发育不全2型家系的临床及基因分析
Fang Li,Yingting Yang,Yang Liu et al.
Fang Li et al.
Objective: To investigate the clinical characteristics and genetic etiology of a Chinese pedigree affected with Hereditary dentin dysplasia type II (DD-II) due to variant of dentin sialophosphoprotein (DSPP) gene. ...
[Distribution of amniotic chromosomal abnormalities and optimization of prenatal diagnosis strategies for pregnant women in Liangshan region] [0.03%]
凉山州羊水细胞染色体异常分布及孕产妇产前筛查与诊断策略的优化研究
Liling Lu,Qiong Wu,Hua Li et al.
Liling Lu et al.
Objective: To investigate the characteristics of chromosomal abnormalities in amniotic fluid among pregnant women in Liangshan Prefecture and explore strategies for optimizing prenatal diagnosis. ...
[Genetic screening and typing study of Thalassemia among ethnic Miao Group in Qianxinan area of China] [0.03%]
中国黔西南苗族β地中海贫血基因筛查及型别分析研究
Xiuxiu Zhang,Yan He,Yonghui Liao et al.
Xiuxiu Zhang et al.
Objective: To determine the carrier rate for thalassemia mutations in the ethnic Miao population of Qianxinan Prefecture. Methods: Ethn...
[Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene] [0.03%]
COL18A1基因突变所致2例Knobloch综合征的临床及遗传学分析
Xuyuan Gao,Yongping Tang,Zailong Chi
Xuyuan Gao
Objective: To explore the clinical phenotype and genetic characteristics in two children with Knobloch syndrome (KNO) due to variants of COL18A1 gene. Met...
[Phenotypic and genotypic analysis of five fetuses with Harlequin ichthyosis due to variants of ABCA12 gene] [0.03%]
ABCA12基因变异的5例哈金森婴儿鱼鳞病表型和基因型分析
Yimo Zeng,Juan Zhu,Jing Wu et al.
Yimo Zeng et al.
Objective: To explore the clinical and genetic characteristics of five fetuses with Harlequin ichthyosis (HI). Methods: Five fetuses wi...
[Etiological analysis of a family with recurrent miscarriages caused by complex genomic rearrangement] [0.03%]
[一对反复流产夫妇的病因分析发现复杂的基因组重排]
Yuxin Zhang,Jiangyang Xue,Min Xie et al.
Yuxin Zhang et al.
Objective: To investigate the genetic characteristics and clinical utility of Optical genome mapping (OGM) in resolving complex genomic rearrangements in families with recurrent pregnancy loss. ...
[Analysis of false-negative cases by Optical genome mapping and a literature review] [0.03%]
光学基因图谱假阴性案例分析及文献回顾
Junrong Zhang,Min Su,Yuquan Zhang et al.
Junrong Zhang et al.
Objective: To explore the reasons for false negative results by Optical genome mapping (OGM) analysis of three cases and propose strategies for handling them. ...