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Frontiers in Pediatrics|July 14, 2025
Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variationsJunfeng Zeng, Xiaoling Huang, Yanwei Li, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|February 1, 2026
[Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome]Xiaofei Liu, Ya'nan Wang, Tizhen Yan, et al.
Hematology (Amsterdam, Netherlands)|April 16, 2024
Hb H disease associated with compound heterozygosity for --<sup>SEA</sup> deletion and a novel alpha globin chain variant (<i>HBA2</i>:c.175C>A) on the distal histidine in a Chinese familyManna Sun, Jiwu Lou, Wang Xinghe, et al.
Clinical Chemistry and Laboratory Medicine|September 10, 2015
Rapid detection of non-deletional mutations causing α-thalassemia by multicolor melting curve analysisQiuying Huang, Xudong Wang, Ning Tang, et al.
Hemoglobin|January 15, 2020
Diagnosis and Prenatal Diagnosis in a Chinese Family Carrying the Rare α-Thalassemia Gene <i>HBA2</i>: c.1A>G MutationXingyuan Chen, Shiqiang Luo, Jun Huang, et al.
Hematology (Amsterdam, Netherlands)|March 30, 2023
Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern ChinaLizhu Chen, Ning Tang, Jun Huang, et al.
Molecular Cytogenetics|August 23, 2023
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restrictionXuemei Tan, Bailing Liu, Tizhen Yan, et al.
Cytogenetic and Genome Research|March 23, 2021
Application of Copy Number Variation Sequencing in Genetic Analysis of Miscarriages in Early and Middle PregnancyShiqiang Luo, Xingyuan Chen, Tizhen Yan, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|May 6, 2019
[Clinical and genetic analysis of a child with Noonan syndrome]Jianqiang Tan, Zhetao Li, Wugao Li, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|July 15, 2019
[SLC22A5 gene mutation analysis and prenatal diagnosis for a family with primary carnitine deficiency]Jianqiang Tan, Dayu Chen, Zhetao Li, et al.
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