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Clinical Chemistry
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November 9, 2025
Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications
Jin Sun, Jie Tang, Lu Wei, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
June 24, 2026
[Clinical characteristics and genetic analysis of a child with Dyggve-Melchior-Clausen syndrome due to variant of DYM gene]
Haiyi Liu, Qianwen Zhang, Guoying Chang, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2017
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature
Niu Li, Guoying Chang, Yufei Xu, et al.
Cell Reports
|
November 9, 2022
NEIL3 contributes to the Fanconi anemia/BRCA pathway by promoting the downstream double-strand break repair step
Niu Li, Yufei Xu, Hongzhu Chen, et al.
Clinical Genetics
|
June 21, 2019
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients
Xin Li, Ruen Yao, Xin Tan, et al.
Nucleic Acids Research
|
November 9, 2022
Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease
Tingting Yu, Yi Zhang, Wen-Qiang Zheng, et al.
BMC Pediatrics
|
December 28, 2024
A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia
Guoying Chang, Fan Yang, Lingwen Ying, et al.
Clinical Immunology (Orlando, Fla.)
|
March 21, 2020
Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients
Niu Li, Jing Wu, Yufen Wu, et al.
Frontiers in Genetics
|
April 26, 2021
Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis
Xinyao Zhou, Jia Zhou, Xing Wei, et al.
Translational Pediatrics
|
November 11, 2025
Two Chinese patients with Basilicata-Akhtar syndrome caused by novel <i>MSL3</i> variants: a case report and literature review
Yanrong Qing, Feihan Hu, Wei Su, et al.
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Showing results (41-50 of 66) with videos related to
Sort By:
Page
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Clinical Chemistry
|
November 9, 2025
Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications
Jin Sun, Jie Tang, Lu Wei, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
June 24, 2026
[Clinical characteristics and genetic analysis of a child with Dyggve-Melchior-Clausen syndrome due to variant of DYM gene]
Haiyi Liu, Qianwen Zhang, Guoying Chang, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2017
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature
Niu Li, Guoying Chang, Yufei Xu, et al.
Cell Reports
|
November 9, 2022
NEIL3 contributes to the Fanconi anemia/BRCA pathway by promoting the downstream double-strand break repair step
Niu Li, Yufei Xu, Hongzhu Chen, et al.
Clinical Genetics
|
June 21, 2019
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients
Xin Li, Ruen Yao, Xin Tan, et al.
Nucleic Acids Research
|
November 9, 2022
Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease
Tingting Yu, Yi Zhang, Wen-Qiang Zheng, et al.
BMC Pediatrics
|
December 28, 2024
A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia
Guoying Chang, Fan Yang, Lingwen Ying, et al.
Clinical Immunology (Orlando, Fla.)
|
March 21, 2020
Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients
Niu Li, Jing Wu, Yufen Wu, et al.
Frontiers in Genetics
|
April 26, 2021
Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis
Xinyao Zhou, Jia Zhou, Xing Wei, et al.
Translational Pediatrics
|
November 11, 2025
Two Chinese patients with Basilicata-Akhtar syndrome caused by novel <i>MSL3</i> variants: a case report and literature review
Yanrong Qing, Feihan Hu, Wei Su, et al.
Page
of 7