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Orphanet Journal of Rare Diseases
|
December 23, 2025
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients
Peiwei Zhao, Li Tan, Qingjie Meng, et al.
Frontiers in Immunology
|
October 7, 2022
A novel CARD11 germline mutation in a Chinese patient of B cell expansion with NF-κB and T cell anergy (BENTA) and literature review
Peiwei Zhao, Yanqiu Hu, Dongming Sun, et al.
Frontiers in Immunology
|
September 24, 2021
Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy
Peiwei Zhao, Qingjie Meng, Yufeng Huang, et al.
Frontiers in Genetics
|
November 8, 2022
Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the <i>ALOX12B</i> gene due to chromosome 17 mixed uniparental disomy
Lei Zhang, Yanqiu Hu, Jingjing Lu, et al.
Epilepsia Open
|
October 3, 2024
Analysis of epilepsy-associated variants in HCN3 - Functional implications and clinical observations
Peiwei Zhao, Hongbo Xiong, Gunagtao Kuang, et al.
Gene
|
December 24, 2022
Identification of a novel TNNI3 synonymous variant causing intron retention in autosomal recessive dilated cardiomyopathy
Ting Yu, Fan Yan, Yu Xu, et al.
Frontiers in Genetics
|
May 8, 2023
Identification and characterization of a new variation in <i>DPM2</i> gene in two Chinese siblings with mild intellectual impairment
Peiwei Zhao, Yanqiu Hu, Juan Hu, et al.
Molecular Genetics & Genomic Medicine
|
December 28, 2020
A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene
Li Tan, Ying Li, Fan Liu, et al.
Frontiers in Genetics
|
August 25, 2022
Identification of the first congenital ichthyosis case caused by a homozygous deletion in the <i>ALOX12B</i> gene due to chromosome 17 mixed uniparental disomy
Lei Zhang, Yanqiu Hu, Jingjing Lu, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
September 3, 2013
The association between CCL2 polymorphisms and drug-resistant epilepsy in Chinese children
Xuelian He, Ying Li, Zhisheng Liu, et al.
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of 5
Search research articles
Search
Showing results (31-40 of 42) with videos related to
Sort By:
Page
of 5
Orphanet Journal of Rare Diseases
|
December 23, 2025
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients
Peiwei Zhao, Li Tan, Qingjie Meng, et al.
Frontiers in Immunology
|
October 7, 2022
A novel CARD11 germline mutation in a Chinese patient of B cell expansion with NF-κB and T cell anergy (BENTA) and literature review
Peiwei Zhao, Yanqiu Hu, Dongming Sun, et al.
Frontiers in Immunology
|
September 24, 2021
Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy
Peiwei Zhao, Qingjie Meng, Yufeng Huang, et al.
Frontiers in Genetics
|
November 8, 2022
Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the <i>ALOX12B</i> gene due to chromosome 17 mixed uniparental disomy
Lei Zhang, Yanqiu Hu, Jingjing Lu, et al.
Epilepsia Open
|
October 3, 2024
Analysis of epilepsy-associated variants in HCN3 - Functional implications and clinical observations
Peiwei Zhao, Hongbo Xiong, Gunagtao Kuang, et al.
Gene
|
December 24, 2022
Identification of a novel TNNI3 synonymous variant causing intron retention in autosomal recessive dilated cardiomyopathy
Ting Yu, Fan Yan, Yu Xu, et al.
Frontiers in Genetics
|
May 8, 2023
Identification and characterization of a new variation in <i>DPM2</i> gene in two Chinese siblings with mild intellectual impairment
Peiwei Zhao, Yanqiu Hu, Juan Hu, et al.
Molecular Genetics & Genomic Medicine
|
December 28, 2020
A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene
Li Tan, Ying Li, Fan Liu, et al.
Frontiers in Genetics
|
August 25, 2022
Identification of the first congenital ichthyosis case caused by a homozygous deletion in the <i>ALOX12B</i> gene due to chromosome 17 mixed uniparental disomy
Lei Zhang, Yanqiu Hu, Jingjing Lu, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
September 3, 2013
The association between CCL2 polymorphisms and drug-resistant epilepsy in Chinese children
Xuelian He, Ying Li, Zhisheng Liu, et al.
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of 5