A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures von Zhuang, Jianlong, Xie, Meihua, Yao, Jianfeng, Fu, Wanyu, Zeng, Shuhong, Jiang, Yuying, Wang, Yuanbai, Xie, Yingjun, Wang, Gaoxiong, Chen, Chunnuan

Volltext

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study von Zhuang, Jianlong, Zhang, Na, Wang, Yuanbai, Zhang, Hegan, Zheng, Yu, Jiang, Yuying, Xie, Yingjun, Chen, Dongmei

Volltext

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication von Zhuang, Jianlong, Chen, Chunnuan, Wang, Yuanbai, Zeng, Shuhong, Chen, Yu’e, Jiang, Yuying, Xie, Yingjun, Wang, Gaoxiong

Volltext

Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China von Zhuang, Jianlong, Chen, Chunnuan, Jiang, Yuying, Luo, Qi, Zeng, Shuhong, Lv, Chunling, Wang, Yuanbai, Fu, Wanyu

Volltext

A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant von Zhuang, Jianlong, Luo, Qi, Zeng, Shuhong, Chen, Yu’e, Lin, Shuxia, Wang, Yuanbai, Jiang, Yuying

Volltext

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing von Zhuang, Jianlong, Chen, Chunnuan, Chen, Yu'e, Zeng, Shuhong, Jiang, Yuying, Wang, Yuanbai, Chen, Xinying, Xie, Yingjun, Wang, Gaoxiong

Volltext

A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication von Zhuang, Jianlong, Wang, Yuanbai, Zeng, Shuhong, Lv, Chunling, Lin, Yiming, Jiang, Yuying

Volltext

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report von Zhuang, Jianlong, Wang, Junyu, Luo, Qi, Zeng, Shuhong, Chen, Yu’e, Jiang, Yuying, Chen, Xinying, Wang, Yuanbai, Xie, Yingjun, Wang, Gaoxiong, Chen, Chunnuan

Volltext

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array von Zhuang, Jianlong, Zhang, Na, Fu, Wanyu, Yao, Jianfeng, Li, Yanqing, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun, Jiang, Yuying

Volltext

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population von Zhuang, Jianlong, Chen, Chunnuan, Huang, Rongfu, Luo, Qi, Jiang, Yuying, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun

Volltext

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review von Zhuang, Jianlong, Luo, Qi, Xie, Meihua, Chen, Yu’e, Jiang, Yuying, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun, Chen, Chunnuan

Volltext

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review von Zhuang, Jianlong, Chen, Chunnuan, Li, Jia, Jiang, Yuying, Wang, Junyu, Wang, Yuanbai, Zeng, Shuhong, Lin, Yiming, Xie, Yingjun

Volltext

Molecular analysis of a large novel deletion causing α + -thalassemia von Zhuang, Jianlong, Tian, Jie, Wei, Jitao, Zheng, Yu, Zhuang, Qianmei, Wang, Yuanbai, Xie, Qingyue, Zeng, Shuhong, Wang, Geng, Pan, Yanchao, Jiang, Yuying

Volltext

Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China von Shi, Lijing, Huang, Hui, Jiang, Qiuxia, Huang, Rongsen, Fu, Wanyu, Mao, Liangwei, Wei, Xiaoming, Cui, Huanhuan, Lin, Keke, Cai, Licheng, Yang, You, Wang, Yuanbai, Wu, Jing

Volltext

Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing von Zhuang, Jianlong, Chen, Chunnuan, Chen, Yu'e, Luo, Qi, Wang, Yuanbai, Jiang, Yuying, Zeng, Shuhong, Xie, Yingjun, Chen, Dongmei

Volltext

Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China von Zhuang, Jianlong, Jiang, Yuying, Wang, Yuanbai, Zheng, Yu, Zhuang, Qianmei, Wang, Junyu, Zeng, Shuhong

Volltext

Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare a- and b-Globin Gene Variants in Thalassemia Alleles in the Chinese Population von Zhuang, Jianlong, Chen, Chunnuan, Fu, Wanyu, Wang, Yuanbai, Zhuang, Qianmei, Lu, Yulin, Xie, Tiantian, Xu, Ruofan, Zeng, Shuhong, Jiang, Yuying, Xie, Yingjun, Wang, Gaoxiong

Volltext

Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families von Zhuang, Jianlong, Zheng, Yu, Wang, Yuanbai, Zhuang, Qianmei, Jiang, Yuying, Xie, Qingyue, Zeng, Shuhong, Zeng, Jianxing

Volltext

Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population von Zhuang, Jianlong, Chen, Chunnuan, Fu, Wanyu, Wang, Yuanbai, Zhuang, Qianmei, Lu, Yulin, Xie, Tiantian, Xu, Ruofan, Zeng, Shuhong, Jiang, Yuying, Xie, Yingjun, Wang, Gaoxiong

Volltext

Molecular analysis of a large novel deletion causing [alpha]+-thalassemia von Zhuang, Jianlong, Tian, Jie, Wei, Jitao, Zheng, Yu, Zhuang, Qianmei, Wang, Yuanbai, Xie, Qingyue, Zeng, Shuhong, Wang, Geng, Pan, Yanchao, Jiang, Yuying

Volltext