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Biomed Research International
|
March 8, 2018
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of <i>LRRC6</i> in a Chinese Primary Ciliary Dyskinesia Patient
Lv Liu, Hong Luo
Biomed Research International
|
July 6, 2019
Whole-Exome Sequencing Identified a De Novo Mutation of <i>Junction Plakoglobin</i> (p.R577C) in a Chinese Patient with Arrhythmogenic Right Ventricular Cardiomyopathy
Lv Liu, Chan Chen, YaLi Li, et al.
DNA and Cell Biology
|
November 12, 2020
Identification of a Missense Mutation in the <i>Surfactant Protein A2</i> Gene in a Chinese Family with Interstitial Lung Disease
Lv Liu, Yi-Jie Liu, Ting Guo, et al.
Cardiology
|
February 8, 2017
Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family
Rong Yu, Lv Liu, Chan Chen, et al.
Frontiers in Medicine
|
September 24, 2025
Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dubé syndrome: a long-term follow-up study
Xi Kang, Ting Guo, Ali Basit, et al.
Molecular Biology Reports
|
August 21, 2025
The TXNIP-mTOR-Autophagy axis in diabetic kidney disease: mechanistic insights and therapeutic implications
Qi Zhu, Xiaodan Wu, Yunhua Di, et al.
Biomed Research International
|
January 28, 2021
<i>MITF</i> p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome
Rong Yu, Lv Liu, Ya-Li Li, et al.
Molecular Medicine Reports
|
March 25, 2017
Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy
Ting Guo, Kai Yang, Lv Liu, et al.
Frontiers in Pediatrics
|
July 5, 2021
Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α<i>-Actin 1</i> in a Chinese Family With Macrothrombocytopenia and Mild Bleeding
Fang-Mei Luo, Liang-Liang Fan, Yue Sheng, et al.
Frontiers in Neuroscience
|
May 17, 2021
Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A
Fang-Mei Luo, Ming-Xing Deng, Rong Yu, et al.
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Search research articles
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Showing results (1-10 of 41) with videos related to
Sort By:
Page
of 5
Biomed Research International
|
March 8, 2018
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of <i>LRRC6</i> in a Chinese Primary Ciliary Dyskinesia Patient
Lv Liu, Hong Luo
Biomed Research International
|
July 6, 2019
Whole-Exome Sequencing Identified a De Novo Mutation of <i>Junction Plakoglobin</i> (p.R577C) in a Chinese Patient with Arrhythmogenic Right Ventricular Cardiomyopathy
Lv Liu, Chan Chen, YaLi Li, et al.
DNA and Cell Biology
|
November 12, 2020
Identification of a Missense Mutation in the <i>Surfactant Protein A2</i> Gene in a Chinese Family with Interstitial Lung Disease
Lv Liu, Yi-Jie Liu, Ting Guo, et al.
Cardiology
|
February 8, 2017
Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family
Rong Yu, Lv Liu, Chan Chen, et al.
Frontiers in Medicine
|
September 24, 2025
Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dubé syndrome: a long-term follow-up study
Xi Kang, Ting Guo, Ali Basit, et al.
Molecular Biology Reports
|
August 21, 2025
The TXNIP-mTOR-Autophagy axis in diabetic kidney disease: mechanistic insights and therapeutic implications
Qi Zhu, Xiaodan Wu, Yunhua Di, et al.
Biomed Research International
|
January 28, 2021
<i>MITF</i> p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome
Rong Yu, Lv Liu, Ya-Li Li, et al.
Molecular Medicine Reports
|
March 25, 2017
Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy
Ting Guo, Kai Yang, Lv Liu, et al.
Frontiers in Pediatrics
|
July 5, 2021
Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α<i>-Actin 1</i> in a Chinese Family With Macrothrombocytopenia and Mild Bleeding
Fang-Mei Luo, Liang-Liang Fan, Yue Sheng, et al.
Frontiers in Neuroscience
|
May 17, 2021
Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A
Fang-Mei Luo, Ming-Xing Deng, Rong Yu, et al.
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of 5