Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hegan Zhang"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Limited research has been conducted regarding the elucidation of genotype–phenotype correlations within the 20q13.33 region. The genotype–phenotype association of 20q13.33 microdeletion remains inadequately understood. In the
Externí odkaz:
https://doaj.org/article/ce51793ffaff4c2fb1e50ec987e5c2a9
Autor:
Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
Abstract Background Pathogenic mutations in EVC or EVC2 gene can lead to Ellis‐van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder. This study aimed to determine pathogenic gene variations associated with EvC
Externí odkaz:
https://doaj.org/article/a1d314ae38544097b1dc78ac76fa0c6d
Autor:
Jianlong Zhuang, Chunnuan Chen, Hegan Zhang, Wanyu Fu, Yanqing Li, Yuying Jiang, Shuhong Zeng, Xiaoxia Wu, Yingjun Xie, Gaoxiong Wang
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Background Partial trisomy 13q is a less common chromosomal abnormality with a great clinical variability, among them, isolated partial trisomy 13q is extremely rare. Here, we report two new unrelated cases of partial trisomy 13q in Chinese
Externí odkaz:
https://doaj.org/article/b51de13cba9143fbadb97307ac1406d4
Autor:
Jianlong Zhuang, Na Zhang, Yuanbai Wang, Hegan Zhang, Yu Zheng, Yuying Jiang, Yingjun Xie, Dongmei Chen
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: There are limited reports available on investigations into the molecular spectrum of thalassemia and hemoglobinopathy in Fujian province, Southeast China. Here, we aim to reveal the spectrum of the thalassemia mutation and hemoglobinopath
Externí odkaz:
https://doaj.org/article/c56a74324be4458789865cf4624f67a4