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Experimental and Therapeutic Medicine
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February 15, 2024
Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy
Bin Mao, Jie Yang, Xiaodong Zhao, et al.
Journal of Cellular and Molecular Medicine
|
May 9, 2026
Mutation in MSH5 Causes Primary Ovarian Insufficiency and Successful Therapeutic Intervention by In Vitro Fertilisation
Bin Mao, Lili Zhang, Xiaodong Zhao, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 9, 2022
Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency
Rui Zhang, Yajing Hao, Ying Xu, et al.
Frontiers in Molecular Neuroscience
|
August 4, 2017
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis
Yi Dai, Yaling Ma, Shengde Li, et al.
Scientific Reports
|
September 29, 2017
A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis
Zhao Zhang, Shengyun Liang, Dan Wang, et al.
Indian Journal of Dermatology, Venereology and Leprology
|
November 23, 2019
Familial pityriasis rubra pilaris in a Chinese family caused by a novel mutation in CARD14 gene
Tieqiang Wu, Santasree Banerjee, Jianlian Deng, et al.
Genes & Diseases
|
November 20, 2025
Dissecting trophoblastic heterogeneity in abnormal pregnancy: Insights from comparative analysis of twin-pregnancy with hydatidiform mole and coexisting live fetus
Chen Li, Jiandong Chen, Hao Wu, et al.
Oncotarget
|
July 9, 2016
A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis
Zhao Zhang, Shengran Liang, Hui Huang, et al.
Allergologia Et Immunopathologia
|
November 6, 2022
Whole-exome sequencing identified a homozygous novel <i>RAG1</i> mutation in a child with omenn syndrome
Wendi Wang, Jian Wang, Jingjing Wang, et al.
Neurobiology of Disease
|
November 19, 2025
Pathogenic KIF5C mutation disrupts dendritic spine maturation and mitochondrial trafficking in neurodevelopmental disorders
Xiaojun Wang, Luyu Ye, Santasree Banerjee, et al.
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Search research articles
Search
Showing results (21-30 of 55) with videos related to
Sort By:
Page
of 6
Experimental and Therapeutic Medicine
|
February 15, 2024
Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy
Bin Mao, Jie Yang, Xiaodong Zhao, et al.
Journal of Cellular and Molecular Medicine
|
May 9, 2026
Mutation in MSH5 Causes Primary Ovarian Insufficiency and Successful Therapeutic Intervention by In Vitro Fertilisation
Bin Mao, Lili Zhang, Xiaodong Zhao, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 9, 2022
Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency
Rui Zhang, Yajing Hao, Ying Xu, et al.
Frontiers in Molecular Neuroscience
|
August 4, 2017
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis
Yi Dai, Yaling Ma, Shengde Li, et al.
Scientific Reports
|
September 29, 2017
A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis
Zhao Zhang, Shengyun Liang, Dan Wang, et al.
Indian Journal of Dermatology, Venereology and Leprology
|
November 23, 2019
Familial pityriasis rubra pilaris in a Chinese family caused by a novel mutation in CARD14 gene
Tieqiang Wu, Santasree Banerjee, Jianlian Deng, et al.
Genes & Diseases
|
November 20, 2025
Dissecting trophoblastic heterogeneity in abnormal pregnancy: Insights from comparative analysis of twin-pregnancy with hydatidiform mole and coexisting live fetus
Chen Li, Jiandong Chen, Hao Wu, et al.
Oncotarget
|
July 9, 2016
A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis
Zhao Zhang, Shengran Liang, Hui Huang, et al.
Allergologia Et Immunopathologia
|
November 6, 2022
Whole-exome sequencing identified a homozygous novel <i>RAG1</i> mutation in a child with omenn syndrome
Wendi Wang, Jian Wang, Jingjing Wang, et al.
Neurobiology of Disease
|
November 19, 2025
Pathogenic KIF5C mutation disrupts dendritic spine maturation and mitochondrial trafficking in neurodevelopmental disorders
Xiaojun Wang, Luyu Ye, Santasree Banerjee, et al.
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