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Molecular Genetics and Metabolism
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December 19, 2003
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
Keiko Kobayashi, Yao Bang Lu, Meng Xian Li, et al.
Human Mutation
|
January 17, 2020
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency
Xiujuan Wei, Miaomiao Du, Dongxiao Li, et al.
Human Genome Variation
|
April 16, 2016
A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy
Tetsuya Oda, Hui Xiong, Kazuhiro Kobayashi, et al.
Orphanet Journal of Rare Diseases
|
March 25, 2022
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital
Yi Liu, Zhehui Chen, Hui Dong, et al.
Mitochondrion
|
February 4, 2010
Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies
Yanyan Cao, Yinan Ma, Ying Zhang, et al.
BMC Medical Genetics
|
May 16, 2019
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
Huifang Yan, Zhen Shi, Ye Wu, et al.
Molecular Genetics and Metabolism
|
March 31, 2004
Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle
Takeyori Saheki, Keiko Kobayashi, Mikio Iijima, et al.
Cell Reports
|
April 14, 2021
A membrane arm of mitochondrial complex I sufficient to promote respirasome formation
Hezhi Fang, Xianglai Ye, Jie Xie, et al.
Plos Genetics
|
March 13, 2026
COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function
Yuwei Zhou, Keyi Li, Ruowei Zhu, et al.
ACS Applied Materials & Interfaces
|
May 7, 2020
Flexible Carbon-Fiber/Semimetal Bi Nanosheet Arrays as Separable and Recyclable Plasmonic Photocatalysts and Photoelectrocatalysts
Yanling Yang, Huajun Chen, Xinxin Zou, et al.
Page
of 38
Search research articles
Search
Showing results (331-340 of 376) with videos related to
Sort By:
Page
of 38
Molecular Genetics and Metabolism
|
December 19, 2003
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
Keiko Kobayashi, Yao Bang Lu, Meng Xian Li, et al.
Human Mutation
|
January 17, 2020
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency
Xiujuan Wei, Miaomiao Du, Dongxiao Li, et al.
Human Genome Variation
|
April 16, 2016
A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy
Tetsuya Oda, Hui Xiong, Kazuhiro Kobayashi, et al.
Orphanet Journal of Rare Diseases
|
March 25, 2022
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital
Yi Liu, Zhehui Chen, Hui Dong, et al.
Mitochondrion
|
February 4, 2010
Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies
Yanyan Cao, Yinan Ma, Ying Zhang, et al.
BMC Medical Genetics
|
May 16, 2019
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
Huifang Yan, Zhen Shi, Ye Wu, et al.
Molecular Genetics and Metabolism
|
March 31, 2004
Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle
Takeyori Saheki, Keiko Kobayashi, Mikio Iijima, et al.
Cell Reports
|
April 14, 2021
A membrane arm of mitochondrial complex I sufficient to promote respirasome formation
Hezhi Fang, Xianglai Ye, Jie Xie, et al.
Plos Genetics
|
March 13, 2026
COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function
Yuwei Zhou, Keyi Li, Ruowei Zhu, et al.
ACS Applied Materials & Interfaces
|
May 7, 2020
Flexible Carbon-Fiber/Semimetal Bi Nanosheet Arrays as Separable and Recyclable Plasmonic Photocatalysts and Photoelectrocatalysts
Yanling Yang, Huajun Chen, Xinxin Zou, et al.
Page
of 38