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Journal Article
Journal of Human Genetics, ISSN 1434-5161, 05/2018, Volume 63, Issue 5, pp. 563 - 568
Biallelic mutations in NDUFAF6 have been identified as responsible for cases of autosomal recessive Leigh syndrome associated with mitochondrial complex I... 
MITOCHONDRIAL DISORDERS | LEIGH-SYNDROME | DISEASE | GENES | GENETICS & HEREDITY | Proteins | Disease | Laboratories | Genes | Genetics | Mutation | Patients | Siblings
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 983 - 989
ABSTRACT By way of whole‐exome sequencing, we identified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with... 
aminoacyl tRNA syntethases | TARS2 | encephalomyopathy | VARS2 | OXPHOS defect | mitochondrial disease | Encephalomyopathy | Aminoacyl tRNA syntethases | Mitochondrial disease | CELLS | INVOLVEMENT | BRAIN-STEM | LEUKOENCEPHALOPATHY | GENE | DNA | GENETICS & HEREDITY | Mitochondria - enzymology | Saccharomyces cerevisiae - genetics | Humans | Mitochondrial Encephalomyopathies - enzymology | Infant | Male | Threonine-tRNA Ligase - genetics | HLA Antigens - genetics | RNA, Messenger - metabolism | Electron Transport Complex I - metabolism | Saccharomyces cerevisiae - metabolism | RNA, Transfer, Val - genetics | DNA, Mitochondrial - genetics | Mitochondria - genetics | Electron Transport Complex I - genetics | Isoenzymes - metabolism | Valine-tRNA Ligase - metabolism | Valine-tRNA Ligase - genetics | Child | RNA, Transfer, Thr - genetics | Fibroblasts - metabolism | Cell Line | DNA, Mitochondrial - metabolism | RNA, Transfer, Thr - metabolism | Isoenzymes - genetics | Mitochondrial Encephalomyopathies - genetics | RNA, Messenger - genetics | Mitochondria - pathology | HLA Antigens - metabolism | Polymorphism, Genetic | Mitochondrial Encephalomyopathies - pathology | RNA, Transfer, Val - metabolism | Homozygote | Heterozygote | Fibroblasts - cytology | Mutation | Threonine-tRNA Ligase - metabolism | Proteins | Care and treatment | Analysis | Epilepsy | Genetic aspects | Single nucleotide polymorphisms | Aminoacyl-tRNA synthetases | Transfer RNA
Journal Article
Turkish Journal of Hematology, ISSN 1300-7777, 2017, Volume 34, Issue 4, pp. 376 - 377
The patient, the first child of Turkish first-cousins, was born at term after an uncomplicated pregnancy. Birth parameters were normal. The family history was... 
Lactic acidosis | Sideroblastic anemia | Myopathy | GENE | HEMATOLOGY | MITOCHONDRIAL MYOPATHY | Tıp | Mutation | Disease | Hematology | Anemia | Age | Letter to the Editor
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2017, Volume 12, Issue 3, p. e0174560
Journal Article
Human Mutation, ISSN 1059-7794, 11/2013, Volume 34, Issue 11, pp. 1501 - 1509
Journal Article
Journal Article
Journal of Neurology, ISSN 0340-5354, 1/2017, Volume 264, Issue 1, pp. 102 - 111
Journal Article