[Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene] [0.03%]
HSPB8基因突变所致远端遗传性运动神经病家系分析
Gang Li,Jun Fu,Mi Pang et al.
Gang Li et al.
Objective: To explore phenotypic and mutational characteristics of a pedigree with distal hereditary motor neuropathy (dHMN). Methods: ...
[Analysis of clinical phenotype and genetic variant in a case of familial hemophagocytic lymphohistiocytosis type Ⅲ] [0.03%]
一例家族性噬血细胞综合征三型的临床表型及基因突变分析
Yue Wang,Qiang Luo,Peichao Tian et al.
Yue Wang et al.
Objective: To explore the genetic basis for a newborn with familial hemophagocytic lymphohistiocytosis type 3 (FHL3). Methods: Clinical...
[Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1] [0.03%]
[OFD1基因病理突变在中国口腔-面部- digits综合征家系中的鉴定]
Peixuan Cao,Xiangyu Zhu,Leilei Gu et al.
Peixuan Cao et al.
Objective: To detect pathological variant in a Chinese pedigree affected with oral-facial-digital syndrome type 1 (OFD1). Methods: Whol...
[Clinical characteristics and genetic analysis of a pedigree affected with neonatal central core disease] [0.03%]
新生儿中央核病家系的临床特征和遗传分析
Xiaoyun Dong,Xuan Zheng,Fatao Lin et al.
Xiaoyun Dong et al.
Objective: To investigate the possible causative factors of central core disease(CCD), the clinical features of a neonatal case with CCD and five patients in the pedigree line were analyzed for RYR1 gene variant. ...
[Clinical characteristics and analysis of IDS gene variant in a child with mucopolysaccharidosis type Ⅱ] [0.03%]
[idus基因变异黏多糖贮积症Ⅱ型患儿的临床特征及分析]
Yan Lin,Xiaona Yin,Haiyan Lei et al.
Yan Lin et al.
Objective: To summarize the clinical features, laboratory examination and genetic analysis of a patient with mucopolysaccharidosis type Ⅱ (MPS Ⅱ). Metho...
[Two cases of coagulation factor Ⅺ deficiency caused by compound heterozygous mutations] [0.03%]
复合杂合突变所致血浆凝血因子XI缺乏症2例报告
Qian Li,Min Zhou,Yong Xu et al.
Qian Li et al.
Objective: To investigate the molecular pathogenesis of two coagulation factor Ⅺ (FⅪ) deficiency patients. Methods: Coagulant assays:...
[Analysis of hereditary coagulation factor Ⅺ deficiency in a Chinese pedigree with compound heterozygous mutations] [0.03%]
中国人第十一凝血因子遗传性缺乏症复合杂合突变分析
Yuping Deng,Yuxiang Gong,Jiajin Zhu et al.
Yuping Deng et al.
Objective: To explore the molecular mechanisms of a Chinese pedigree with hereditary factor Ⅺ (FⅪ) deficiency. Methods: All of the 15...
[Analysis of two pedigrees affected with inherited dysfibrinogenemia due to a novel c.1115 T>A variant of the FGB gene] [0.03%]
FGB基因新型c.1115T>A变异导致遗传性 Dysfibrinogenemia两例家系分析
Xiaoou Wang,Yating Yao,Suzhen Lin et al.
Xiaoou Wang et al.
Objective: To analyze the phenotype and genotype of two Chinese family with inherited dysfibrinogenemia and the molecular pathogenic mechanism. Methods: ...
[Establishment of sequence-based typing assay for KIR2DS4 gene and identification of a new allele KIR2DS4*016] [0.03%]
基于序列分型的KIR2DS4基因多态性检测方法建立及新等位基因KIR2DS4*016发现
Yunping Xu,Liyan Sun,Liumei He et al.
Yunping Xu et al.
Objective: To establish a reliable sequence-based typing method for KIR2DS4 and study its allele polymorphism in Chinese Han population. Methods: ...
[Comprehensive genetic analysis in first or second trimester pregnancy loss using chromosomal microarray with single nucleotide polymorphism probes] [0.03%]
基于单核苷酸多态性的染色体微阵列技术在早期妊娠丢失中的应用价值研究
Lifen Zhu,Huimin Zhang,Qiting Du et al.
Lifen Zhu et al.
Objective: To explore possible genetic causes associated with early pregnancy loss using chromosomal microarray analysis (CMA) with single nucleotide polymorphism (SNP) probes. ...