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BMC Medical Genomics
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December 20, 2023
Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria
Danhua Liu, Yongli Zhao, Xia Xue, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology
|
July 21, 2022
The N6-methyladenosine writer WTAP contributes to the induction of immune tolerance post kidney transplantation by targeting regulatory T cells
Zhigang Wang, Yuanbo Qi, Yonghua Feng, et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery
|
May 30, 2025
[Phenotypic and pathogenic variant analysis of an X-linked dominant inherited non-syndromic hearing loss pedigree]
Ziyu Zhai, Hongen Xu, Le Wang, et al.
Human Mutation
|
April 14, 2025
Exonic Deletions and Deep Intronic Variants of the <i>SLC26A4</i> Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct
Yongan Tian, Mengli Liu, Yu Lu, et al.
Molecular Genetics & Genomic Medicine
|
August 9, 2020
Perrault syndrome: Clinical report and retrospective analysis
Zhaoyu Pan, Hongen Xu, Yongan Tian, et al.
Molecular Genetics & Genomic Medicine
|
December 10, 2020
Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype
Yanfang Mi, Danhua Liu, Beiping Zeng, et al.
Translational Pediatrics
|
March 12, 2021
A novel missense mutation in <i>SMPX</i> causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family
Yingyuan Guo, Yanru Hao, Dejun Zhang, et al.
Frontiers in Genetics
|
December 26, 2022
Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing
Beiping Zeng, Hongen Xu, Yanan Yu, et al.
Human Molecular Genetics
|
June 1, 2025
COQ8B gene deficiency as a potential cause of retinal abnormalities in Pediatric kidney transplant recipients
Yonghua Feng, Yi Feng, Zhigang Wang, et al.
Chinese Medical Journal
|
September 6, 2023
Early prediction of growth patterns after pediatric kidney transplantation based on height-related single-nucleotide polymorphisms
Yi Feng, Yonghua Feng, Mingyao Hu, et al.
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Search research articles
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Showing results (31-40 of 63) with videos related to
Sort By:
Page
of 7
BMC Medical Genomics
|
December 20, 2023
Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria
Danhua Liu, Yongli Zhao, Xia Xue, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology
|
July 21, 2022
The N6-methyladenosine writer WTAP contributes to the induction of immune tolerance post kidney transplantation by targeting regulatory T cells
Zhigang Wang, Yuanbo Qi, Yonghua Feng, et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery
|
May 30, 2025
[Phenotypic and pathogenic variant analysis of an X-linked dominant inherited non-syndromic hearing loss pedigree]
Ziyu Zhai, Hongen Xu, Le Wang, et al.
Human Mutation
|
April 14, 2025
Exonic Deletions and Deep Intronic Variants of the <i>SLC26A4</i> Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct
Yongan Tian, Mengli Liu, Yu Lu, et al.
Molecular Genetics & Genomic Medicine
|
August 9, 2020
Perrault syndrome: Clinical report and retrospective analysis
Zhaoyu Pan, Hongen Xu, Yongan Tian, et al.
Molecular Genetics & Genomic Medicine
|
December 10, 2020
Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype
Yanfang Mi, Danhua Liu, Beiping Zeng, et al.
Translational Pediatrics
|
March 12, 2021
A novel missense mutation in <i>SMPX</i> causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family
Yingyuan Guo, Yanru Hao, Dejun Zhang, et al.
Frontiers in Genetics
|
December 26, 2022
Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing
Beiping Zeng, Hongen Xu, Yanan Yu, et al.
Human Molecular Genetics
|
June 1, 2025
COQ8B gene deficiency as a potential cause of retinal abnormalities in Pediatric kidney transplant recipients
Yonghua Feng, Yi Feng, Zhigang Wang, et al.
Chinese Medical Journal
|
September 6, 2023
Early prediction of growth patterns after pediatric kidney transplantation based on height-related single-nucleotide polymorphisms
Yi Feng, Yonghua Feng, Mingyao Hu, et al.
Page
of 7