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Journal of Medical Genetics
|
October 23, 2025
PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 <i>PURA</i> variant
Yan Wang, Ping Wang, Jingjing He, et al.
Molecular Genetics & Genomic Medicine
|
November 10, 2023
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene
Yu Tan, Huan Tian, Jingqun Mai, et al.
Prenatal Diagnosis
|
March 12, 2026
Prenatal Variable Expressivity of a Maternal FGFR1 Truncating Variant in Consecutive Pregnancies: A Dual-Generation Case Report
Huining Jing, Hao Wang, Bocheng Xu, et al.
Frontiers in Genetics
|
August 26, 2024
Case Report: Whole exome sequencing identifies compound heterozygous variants in the <i>TRAPPC9</i> gene in a child with developmental delay
Bingxuan Yu, Jing Chen, Shuo Yang, et al.
Frontiers in Genetics
|
May 12, 2025
Prenatal diagnosis of a compound heterozygous variation in the <i>FBXL4</i> gene by trio-WES and imaging monitoring: a case report
Yujia Zhai, Jing Chen, Shuo Yang, et al.
Orphanet Journal of Rare Diseases
|
September 26, 2025
Correction: Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene
Ping Wang, Hanbing Xie, Xiao Xiao, et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition
|
November 19, 2003
[An experimental research in the inhibiting effect of bFGF-MAb on the growth of ovarian cancer cells and transplanted tumor]
Wei Lin, Zhilan Peng, Guanglin Wang, et al.
Journal of Cardiothoracic and Vascular Anesthesia
|
February 4, 2010
Cardioprotection afforded by St Thomas solution is enhanced by emulsified isoflurane in an isolated heart ischemia reperfusion injury model in rats
Han Huang, Wensheng Zhang, Shanling Liu, et al.
BMC Pediatrics
|
February 8, 2022
A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
Qian Hu, Jingqun Mai, Qinqin Xiang, et al.
Frontiers in Neuroscience
|
August 7, 2024
Case report: Genetic diagnoses in a pediatric patient with retinoblastoma and comorbid global developmental delay: three distinct entities diagnosed by whole exome sequencing in a single patient
Jing Chen, Shuo Yang, He Wang, et al.
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Search research articles
Search
Showing results (41-50 of 175) with videos related to
Sort By:
Page
of 18
Journal of Medical Genetics
|
October 23, 2025
PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 <i>PURA</i> variant
Yan Wang, Ping Wang, Jingjing He, et al.
Molecular Genetics & Genomic Medicine
|
November 10, 2023
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene
Yu Tan, Huan Tian, Jingqun Mai, et al.
Prenatal Diagnosis
|
March 12, 2026
Prenatal Variable Expressivity of a Maternal FGFR1 Truncating Variant in Consecutive Pregnancies: A Dual-Generation Case Report
Huining Jing, Hao Wang, Bocheng Xu, et al.
Frontiers in Genetics
|
August 26, 2024
Case Report: Whole exome sequencing identifies compound heterozygous variants in the <i>TRAPPC9</i> gene in a child with developmental delay
Bingxuan Yu, Jing Chen, Shuo Yang, et al.
Frontiers in Genetics
|
May 12, 2025
Prenatal diagnosis of a compound heterozygous variation in the <i>FBXL4</i> gene by trio-WES and imaging monitoring: a case report
Yujia Zhai, Jing Chen, Shuo Yang, et al.
Orphanet Journal of Rare Diseases
|
September 26, 2025
Correction: Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene
Ping Wang, Hanbing Xie, Xiao Xiao, et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition
|
November 19, 2003
[An experimental research in the inhibiting effect of bFGF-MAb on the growth of ovarian cancer cells and transplanted tumor]
Wei Lin, Zhilan Peng, Guanglin Wang, et al.
Journal of Cardiothoracic and Vascular Anesthesia
|
February 4, 2010
Cardioprotection afforded by St Thomas solution is enhanced by emulsified isoflurane in an isolated heart ischemia reperfusion injury model in rats
Han Huang, Wensheng Zhang, Shanling Liu, et al.
BMC Pediatrics
|
February 8, 2022
A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
Qian Hu, Jingqun Mai, Qinqin Xiang, et al.
Frontiers in Neuroscience
|
August 7, 2024
Case report: Genetic diagnoses in a pediatric patient with retinoblastoma and comorbid global developmental delay: three distinct entities diagnosed by whole exome sequencing in a single patient
Jing Chen, Shuo Yang, He Wang, et al.
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of 18