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Journal of Cellular and Molecular Medicine
|
November 20, 2018
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy
Yi Dai, Shengran Liang, Xue Dong, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 3, 2025
HDAC3 in neurodevelopmental disorders: Molecular mechanisms and targeted intervention
Hassna Chourri, Ruping Liu, Mainak Sengupta, et al.
Frontiers in Genetics
|
April 14, 2018
Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure
Lin Yang, Santasree Banerjee, Jie Cao, et al.
Frontiers in Genetics
|
February 20, 2018
Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure
Lin Yang, Santasree Banerjee, Jie Cao, et al.
Biomed Research International
|
December 13, 2018
A Novel <i>MLH1</i> Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level
Yanni Zhang, Huishuang Chen, Zhiyu Peng, et al.
Pediatric Cardiology
|
September 17, 2020
Family-Based Whole Genome Sequencing Identified Novel Variants in ABCA5 Gene in a Patient with Idiopathic Ventricular Tachycardia
Zhanhui Du, Shan Kuang, Yong Li, et al.
Frontiers in Cellular and Infection Microbiology
|
November 17, 2025
Correction: Identification and functional characterization of a novel <i>Acinetobacter pittii</i> bacteriophage-encoded depolymerase
Na Zhang, Wei Li, Xue Du, et al.
Experimental Dermatology
|
November 29, 2014
Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma
Santasree Banerjee, Yunqing Ren, Tianying Wei, et al.
Frontiers in Cellular and Infection Microbiology
|
September 29, 2025
Identification and functional characterization of a novel <i>Acinetobacter pittii</i> bacteriophage-encoded depolymerase
Na Zhang, Wei Li, Xue Du, et al.
Oncotarget
|
September 15, 2017
A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome
Bin Wu, Wuyang Ji, Shengran Liang, et al.
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Search research articles
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Showing results (31-40 of 55) with videos related to
Sort By:
Page
of 6
Journal of Cellular and Molecular Medicine
|
November 20, 2018
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy
Yi Dai, Shengran Liang, Xue Dong, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 3, 2025
HDAC3 in neurodevelopmental disorders: Molecular mechanisms and targeted intervention
Hassna Chourri, Ruping Liu, Mainak Sengupta, et al.
Frontiers in Genetics
|
April 14, 2018
Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure
Lin Yang, Santasree Banerjee, Jie Cao, et al.
Frontiers in Genetics
|
February 20, 2018
Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure
Lin Yang, Santasree Banerjee, Jie Cao, et al.
Biomed Research International
|
December 13, 2018
A Novel <i>MLH1</i> Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level
Yanni Zhang, Huishuang Chen, Zhiyu Peng, et al.
Pediatric Cardiology
|
September 17, 2020
Family-Based Whole Genome Sequencing Identified Novel Variants in ABCA5 Gene in a Patient with Idiopathic Ventricular Tachycardia
Zhanhui Du, Shan Kuang, Yong Li, et al.
Frontiers in Cellular and Infection Microbiology
|
November 17, 2025
Correction: Identification and functional characterization of a novel <i>Acinetobacter pittii</i> bacteriophage-encoded depolymerase
Na Zhang, Wei Li, Xue Du, et al.
Experimental Dermatology
|
November 29, 2014
Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma
Santasree Banerjee, Yunqing Ren, Tianying Wei, et al.
Frontiers in Cellular and Infection Microbiology
|
September 29, 2025
Identification and functional characterization of a novel <i>Acinetobacter pittii</i> bacteriophage-encoded depolymerase
Na Zhang, Wei Li, Xue Du, et al.
Oncotarget
|
September 15, 2017
A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome
Bin Wu, Wuyang Ji, Shengran Liang, et al.
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