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Life Sciences
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May 8, 2026
The key regulator of ferroptosis: HIF-1α and its complex roles and treatment strategies in related diseases
Xiaoxiao Zhao, Qin Wang, Jie-Yuan Jin, et al.
Italian Journal of Pediatrics
|
January 20, 2025
Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC)
Yi-Lei Lu, Meng-Wei Liu, Jie-Yuan Jin, et al.
Frontiers in Medicine
|
March 6, 2025
Rare <i>SRRM2</i> mutation in neurodevelopmental disorders involving hyperphagia triggering severe obesity and other complication
Si-Hua Chang, Xia Wang, Jie-Yuan Jin, et al.
Biomed Research International
|
March 22, 2021
A Novel <i>COMP</i> Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
Bing-Bing Guo, Jie-Yuan Jin, Zhuang-Zhuang Yuan, et al.
BMC Medical Genomics
|
July 9, 2026
Identification and growth features of developmental delay with macrocephaly caused by a novel TRIO variant affecting the second SH3 domain
Si-Yuan Zhang, Jie-Yuan Jin, Lei Zeng, et al.
Frontiers in Cardiovascular Medicine
|
March 21, 2022
Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case
Jie-Yuan Jin, Jiao Xiao, Yi Dong, et al.
Frontiers in Pediatrics
|
June 2, 2022
ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics
Lei Zeng, Jie-Yuan Jin, Fang-Mei Luo, et al.
Biomed Research International
|
June 23, 2020
The Novel Compound Heterozygous Mutations of <i>ECEL1</i> Identified in a Family with Distal Arthrogryposis Type 5D
Jie-Yuan Jin, Dan-Yu Liu, Zi-Jun Jiao, et al.
Frontiers in Genetics
|
August 30, 2021
Case Report: A Novel Gross Deletion in <i>PAX3</i> (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
Jie-Yuan Jin, Lei Zeng, Bing-Bing Guo, et al.
Molecular Medicine Reports
|
July 18, 2017
Identification of a compound heterozygous mutation of ABCC2 in a patient with hyperbilirubinemia
Rong Xiang, Jing-Jing Li, Liang-Liang Fan, et al.
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Search research articles
Search
Showing results (1-10 of 59) with videos related to
Sort By:
Page
of 6
Life Sciences
|
May 8, 2026
The key regulator of ferroptosis: HIF-1α and its complex roles and treatment strategies in related diseases
Xiaoxiao Zhao, Qin Wang, Jie-Yuan Jin, et al.
Italian Journal of Pediatrics
|
January 20, 2025
Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC)
Yi-Lei Lu, Meng-Wei Liu, Jie-Yuan Jin, et al.
Frontiers in Medicine
|
March 6, 2025
Rare <i>SRRM2</i> mutation in neurodevelopmental disorders involving hyperphagia triggering severe obesity and other complication
Si-Hua Chang, Xia Wang, Jie-Yuan Jin, et al.
Biomed Research International
|
March 22, 2021
A Novel <i>COMP</i> Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
Bing-Bing Guo, Jie-Yuan Jin, Zhuang-Zhuang Yuan, et al.
BMC Medical Genomics
|
July 9, 2026
Identification and growth features of developmental delay with macrocephaly caused by a novel TRIO variant affecting the second SH3 domain
Si-Yuan Zhang, Jie-Yuan Jin, Lei Zeng, et al.
Frontiers in Cardiovascular Medicine
|
March 21, 2022
Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case
Jie-Yuan Jin, Jiao Xiao, Yi Dong, et al.
Frontiers in Pediatrics
|
June 2, 2022
ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics
Lei Zeng, Jie-Yuan Jin, Fang-Mei Luo, et al.
Biomed Research International
|
June 23, 2020
The Novel Compound Heterozygous Mutations of <i>ECEL1</i> Identified in a Family with Distal Arthrogryposis Type 5D
Jie-Yuan Jin, Dan-Yu Liu, Zi-Jun Jiao, et al.
Frontiers in Genetics
|
August 30, 2021
Case Report: A Novel Gross Deletion in <i>PAX3</i> (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
Jie-Yuan Jin, Lei Zeng, Bing-Bing Guo, et al.
Molecular Medicine Reports
|
July 18, 2017
Identification of a compound heterozygous mutation of ABCC2 in a patient with hyperbilirubinemia
Rong Xiang, Jing-Jing Li, Liang-Liang Fan, et al.
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of 6