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Orphanet Journal of Rare Diseases
|
April 12, 2024
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
Yupeng Liu, Xue Ma, Zhehui Chen, et al.
International Journal of Genomics
|
July 31, 2018
Identification of Novel <i>ARSA</i> Mutations in Chinese Patients with Metachromatic Leukodystrophy
Li Chen, Huifang Yan, Binbin Cao, et al.
Neuroscience Bulletin
|
July 3, 2026
Hierarchical Studies in TRAP2 Mice Demonstrate that Neuronal Activation and Mitochondrial Networks Integration Constitute the Key Mechanism Underlying Painful Syncope
Xueyin Pu, Yulu Xia, Ziwei Ni, et al.
Orphanet Journal of Rare Diseases
|
September 2, 2022
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
Zhehui Chen, Hui Dong, Yupeng Liu, et al.
Science Translational Medicine
|
March 2, 2022
SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA
Hezhi Fang, Anran Xie, Miaomiao Du, et al.
Plos One
|
July 5, 2013
Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases
Hui Liu, Yinan Ma, Fang Fang, et al.
Mitochondrion
|
February 6, 2007
Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies
Yu Qi, Ying Zhang, Zhaoxia Wang, et al.
International Journal of Biological Sciences
|
May 29, 2026
The MCU-MECOM Axis Orchestrates Glioblastoma Progression by Remodeling Mitochondrial Dynamics and Quality Control via MAMs
Xiaodong Li, Yaoliang Wang, Feifei Wu, et al.
Journal of Human Genetics
|
February 18, 2021
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
Huifang Yan, Haoran Ji, Thomas Kubisiak, et al.
Plos One
|
March 31, 2022
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria
Yupeng Liu, Zhehui Chen, Lulu Kang, et al.
Page
of 38
Search research articles
Search
Showing results (351-360 of 376) with videos related to
Sort By:
Page
of 38
Orphanet Journal of Rare Diseases
|
April 12, 2024
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
Yupeng Liu, Xue Ma, Zhehui Chen, et al.
International Journal of Genomics
|
July 31, 2018
Identification of Novel <i>ARSA</i> Mutations in Chinese Patients with Metachromatic Leukodystrophy
Li Chen, Huifang Yan, Binbin Cao, et al.
Neuroscience Bulletin
|
July 3, 2026
Hierarchical Studies in TRAP2 Mice Demonstrate that Neuronal Activation and Mitochondrial Networks Integration Constitute the Key Mechanism Underlying Painful Syncope
Xueyin Pu, Yulu Xia, Ziwei Ni, et al.
Orphanet Journal of Rare Diseases
|
September 2, 2022
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
Zhehui Chen, Hui Dong, Yupeng Liu, et al.
Science Translational Medicine
|
March 2, 2022
SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA
Hezhi Fang, Anran Xie, Miaomiao Du, et al.
Plos One
|
July 5, 2013
Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases
Hui Liu, Yinan Ma, Fang Fang, et al.
Mitochondrion
|
February 6, 2007
Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies
Yu Qi, Ying Zhang, Zhaoxia Wang, et al.
International Journal of Biological Sciences
|
May 29, 2026
The MCU-MECOM Axis Orchestrates Glioblastoma Progression by Remodeling Mitochondrial Dynamics and Quality Control via MAMs
Xiaodong Li, Yaoliang Wang, Feifei Wu, et al.
Journal of Human Genetics
|
February 18, 2021
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
Huifang Yan, Haoran Ji, Thomas Kubisiak, et al.
Plos One
|
March 31, 2022
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria
Yupeng Liu, Zhehui Chen, Lulu Kang, et al.
Page
of 38