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Clinica Chimica Acta; International Journal of Clinical Chemistry|June 14, 2024
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese populationXuyun Hu, Ruolan Guo, Zhan Qi, et al.Frontiers in Pediatrics|September 5, 2022
Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosisHaichong Li, Wenyan Zhang, Ziming Yao, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|November 4, 2019
Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patientBoliang Fang, Jun Guo, Chanjuan Hao, et al.Orphanet Journal of Rare Diseases|December 1, 2023
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spineWenyan Zhang, Ziming Yao, Ruolan Guo, et al.BMC Medical Genomics|October 13, 2023
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature reviewRuolan Guo, Yuanying Chen, Xuyun Hu, et al.Journal of Cellular Physiology|April 20, 2011
MicroRNA-181b and microRNA-9 mediate arsenic-induced angiogenesis via NRP1Yi Cui, Zhongji Han, Yi Hu, et al.Journal of Genetics and Genomics = Yi Chuan Xue Bao|August 21, 2007
The BLOC interactomes form a network in endosomal transportWei Li, Yaqin Feng, Chanjuan Hao, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|February 28, 2023
[A case of dilated cardiomyopathy caused by FHL2 gene variant and a literature review]Chunrui Yu, Lijuan Jia, Chanjuan Hao, et al.Life Science Alliance|December 10, 2024
Systematic assessment of structural variant annotation tools for genomic interpretationXuanshi Liu, Lei Gu, Chanjuan Hao, et al.Computational and Structural Biotechnology Journal|November 19, 2020
Prioritizing long range interactions in noncoding regions using GWAS and deletions perturbed TADsXuanshi Liu, Wenjian Xu, Fei Leng, et al.Pageof 6