Search research articles
Contact Us
Filters
Showing results (21-30 of 52) with videos related to
Page
of 6
Sort By:
Genes & Genomics
|
September 1, 2025
Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees
Yingwen Liu, Lulu Yan, Yuxin Zhang, et al.
Translational Pediatrics
|
January 24, 2022
22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation
Jiangyang Xue, Ru Shen, Min Xie, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
September 20, 2023
[Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene]
Lulu Yan, Danyan Zhuang, Youqu Tu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
October 31, 2023
[Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene]
Lulu Yan, Yifan Huo, Yingwen Liu, et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine
|
August 13, 2013
A regulatory variant in CYP2E1 affects the risk of lung squamous cell carcinoma
Lei Cao, Jia Lin, Bing He, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
January 3, 2024
[Clinical phenotype and genetic analysis of a fetus with Cardiac valvular dysplasia type 1]
Lulu Yan, Juan Cao, Yuxin Zhang, et al.
BMC Medical Genomics
|
August 17, 2023
Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China
Lulu Yan, Juan Cao, Yuxin Zhang, et al.
BMC Medical Genomics
|
December 12, 2023
A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report
Lulu Yan, Yan He, Yuxin Zhang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
June 24, 2025
[Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene]
Lulu Yan, Jinghui Zou, Juan Cao, et al.
Plos One
|
April 9, 2014
XPF-673C>T polymorphism effect on the susceptibility to esophageal cancer in Chinese population
Yingwen Liu, Lei Cao, Jiang Chang, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 52) with videos related to
Sort By:
Page
of 6
Genes & Genomics
|
September 1, 2025
Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees
Yingwen Liu, Lulu Yan, Yuxin Zhang, et al.
Translational Pediatrics
|
January 24, 2022
22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation
Jiangyang Xue, Ru Shen, Min Xie, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
September 20, 2023
[Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene]
Lulu Yan, Danyan Zhuang, Youqu Tu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
October 31, 2023
[Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene]
Lulu Yan, Yifan Huo, Yingwen Liu, et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine
|
August 13, 2013
A regulatory variant in CYP2E1 affects the risk of lung squamous cell carcinoma
Lei Cao, Jia Lin, Bing He, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
January 3, 2024
[Clinical phenotype and genetic analysis of a fetus with Cardiac valvular dysplasia type 1]
Lulu Yan, Juan Cao, Yuxin Zhang, et al.
BMC Medical Genomics
|
August 17, 2023
Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China
Lulu Yan, Juan Cao, Yuxin Zhang, et al.
BMC Medical Genomics
|
December 12, 2023
A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report
Lulu Yan, Yan He, Yuxin Zhang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
June 24, 2025
[Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene]
Lulu Yan, Jinghui Zou, Juan Cao, et al.
Plos One
|
April 9, 2014
XPF-673C>T polymorphism effect on the susceptibility to esophageal cancer in Chinese population
Yingwen Liu, Lei Cao, Jiang Chang, et al.
Page
of 6