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Hemoglobin|November 30, 2018
A Rare Hb H Hydrops Fetalis Syndrome Caused by the - -<sup>SEA</sup> Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese PatientQiang Li, Yihong Li, Mei Zhong, et al.
Frontiers in Neurology|May 21, 2020
Identification and Clinical Analysis of the First Nonsense Mutation in the <i>PSEN1</i> Gene in a Family With Acute Encephalopathy and Retinitis PigmentosaChunlin You, Weike Zeng, Lingna Deng, et al.
Journal of Cellular and Molecular Medicine|July 29, 2021
Mesenchymal stem cells from different sources show distinct therapeutic effects in hyperoxia-induced bronchopulmonary dysplasia in ratsYingjun Xie, Fei Chen, Lei Jia, et al.
Molecular Cytogenetics|January 4, 2024
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature reviewYan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, et al.
Frontiers in Genetics|May 1, 2023
Prevalence estimation of ATTRv in China based on genetic databasesZheng Yongsheng, Sun Chong, Liu Bingyou, et al.
Frontiers in Genetics|April 28, 2025
Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseasesXuejun Ouyang, Dazhi Chi, Yu Zhang, et al.
Molecular Genetics and Metabolism|October 22, 2013
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencingHui Yu, Clara van Karnebeek, Graham Sinclair, et al.
Scientific Reports|February 12, 2021
Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohortKunjing Gong, Min Xia, Yaqin Wang, et al.
Molecular Genetics & Genomic Medicine|February 14, 2022
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patientsJianbo Zhao, Guizhen Lyu, Changhong Ding, et al.
Molecular Genetics and Metabolism|February 3, 2019
The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic motherMartine Uittenbogaard, Hao Wang, Victor Wei Zhang, et al.
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