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Journal of Human Genetics
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July 2, 2025
A novel USP27X missense variant identified in an individual with intellectual disability
Sukun Luo, Meng Zhang, Xiankai Zhang, et al.
Plos One
|
May 2, 2024
Correction: Suppression of Mitochondrial Complex I Influences Cell Metastatic Properties
Xuelian He, Aifen Zhou, Hao Lu, et al.
Inflammation
|
February 28, 2012
Serum amyloid A levels associated with gastrointestinal manifestations in Henoch-Schönlein purpura
Xuelian He, Yulan Zhao, Yin Li, et al.
Scientific Reports
|
October 16, 2024
A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever
Peiwei Zhao, Qingjie Meng, Yali Wu, et al.
Neurogenetics
|
February 21, 2023
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients
Peiwei Zhao, Qingjie Meng, Chunhui Wan, et al.
Molecular Genetics & Genomic Medicine
|
October 17, 2022
A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review
Sukun Luo, Yanqiu Hu, Ping Xiong, et al.
Rheumatology International
|
January 18, 2013
The genetics of Henoch-Schönlein purpura: a systematic review and meta-analysis
Xuelian He, Chunhua Yu, Peiwei Zhao, et al.
Frontiers in Genetics
|
September 28, 2020
Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis
Sukun Luo, Bo Bi, Baiqi Zhu, et al.
Molecular Genetics & Genomic Medicine
|
December 13, 2021
Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
Yufeng Huang, Bo Bi, Peiwei Zhao, et al.
Molecular Genetics & Genomic Medicine
|
September 1, 2021
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome
Sukun Luo, Bo Bi, Wenqian Zhang, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 42) with videos related to
Sort By:
Page
of 5
Journal of Human Genetics
|
July 2, 2025
A novel USP27X missense variant identified in an individual with intellectual disability
Sukun Luo, Meng Zhang, Xiankai Zhang, et al.
Plos One
|
May 2, 2024
Correction: Suppression of Mitochondrial Complex I Influences Cell Metastatic Properties
Xuelian He, Aifen Zhou, Hao Lu, et al.
Inflammation
|
February 28, 2012
Serum amyloid A levels associated with gastrointestinal manifestations in Henoch-Schönlein purpura
Xuelian He, Yulan Zhao, Yin Li, et al.
Scientific Reports
|
October 16, 2024
A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever
Peiwei Zhao, Qingjie Meng, Yali Wu, et al.
Neurogenetics
|
February 21, 2023
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients
Peiwei Zhao, Qingjie Meng, Chunhui Wan, et al.
Molecular Genetics & Genomic Medicine
|
October 17, 2022
A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review
Sukun Luo, Yanqiu Hu, Ping Xiong, et al.
Rheumatology International
|
January 18, 2013
The genetics of Henoch-Schönlein purpura: a systematic review and meta-analysis
Xuelian He, Chunhua Yu, Peiwei Zhao, et al.
Frontiers in Genetics
|
September 28, 2020
Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis
Sukun Luo, Bo Bi, Baiqi Zhu, et al.
Molecular Genetics & Genomic Medicine
|
December 13, 2021
Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
Yufeng Huang, Bo Bi, Peiwei Zhao, et al.
Molecular Genetics & Genomic Medicine
|
September 1, 2021
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome
Sukun Luo, Bo Bi, Wenqian Zhang, et al.
Page
of 5