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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 population
Xuyun Hu, Ruolan Guo, Zhan Qi, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2016
Further defining the critical genes for the 4q21 microdeletion disorder
Xuyun Hu, Xiaoli Chen, Bingbing Wu, et al.
BMC Medical Genomics
|
October 13, 2023
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review
Ruolan Guo, Yuanying Chen, Xuyun Hu, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
May 26, 2018
MiR-27b Impairs Adipocyte Differentiation of Human Adipose Tissue-Derived Mesenchymal Stem Cells by Targeting LPL
Xumin Hu, Jianhua Tang, Xuyun Hu, et al.
Fetal and Pediatric Pathology
|
January 12, 2019
CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia
Yan Sun, Jun Shen, Xuyun Hu, et al.
Molecular Cytogenetics
|
August 31, 2017
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data
Ruen Yao, Cheng Zhang, Tingting Yu, et al.
Pediatric Investigation
|
August 28, 2020
Novel <i>HMGCS2</i> pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Pengfei Zhang, Xuyun Hu, Ruolan Guo, et al.
Molecular Cytogenetics
|
January 1, 2020
A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
Xuyun Hu, Jun Liu, Ruolan Guo, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 6, 2026
Genetic screening of EIF2B genes reveals mutation spectrum and predicted prevalence of vanishing white matter disease in Chinese population
Xiaoli Liu, Ruolan Guo, Zhan Qi, et al.
Journal of Cellular Physiology
|
April 24, 2019
RGS1 silencing inhibits the inflammatory response and angiogenesis in rheumatoid arthritis rats through the inactivation of Toll-like receptor signaling pathway
Xumin Hu, Jianhua Tang, Gang Zeng, et al.
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Showing results (11-20 of 61) with videos related to
Sort By:
Page
of 7
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 population
Xuyun Hu, Ruolan Guo, Zhan Qi, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2016
Further defining the critical genes for the 4q21 microdeletion disorder
Xuyun Hu, Xiaoli Chen, Bingbing Wu, et al.
BMC Medical Genomics
|
October 13, 2023
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review
Ruolan Guo, Yuanying Chen, Xuyun Hu, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
May 26, 2018
MiR-27b Impairs Adipocyte Differentiation of Human Adipose Tissue-Derived Mesenchymal Stem Cells by Targeting LPL
Xumin Hu, Jianhua Tang, Xuyun Hu, et al.
Fetal and Pediatric Pathology
|
January 12, 2019
CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia
Yan Sun, Jun Shen, Xuyun Hu, et al.
Molecular Cytogenetics
|
August 31, 2017
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data
Ruen Yao, Cheng Zhang, Tingting Yu, et al.
Pediatric Investigation
|
August 28, 2020
Novel <i>HMGCS2</i> pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Pengfei Zhang, Xuyun Hu, Ruolan Guo, et al.
Molecular Cytogenetics
|
January 1, 2020
A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
Xuyun Hu, Jun Liu, Ruolan Guo, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 6, 2026
Genetic screening of EIF2B genes reveals mutation spectrum and predicted prevalence of vanishing white matter disease in Chinese population
Xiaoli Liu, Ruolan Guo, Zhan Qi, et al.
Journal of Cellular Physiology
|
April 24, 2019
RGS1 silencing inhibits the inflammatory response and angiogenesis in rheumatoid arthritis rats through the inactivation of Toll-like receptor signaling pathway
Xumin Hu, Jianhua Tang, Gang Zeng, et al.
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of 7