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Publications by Leo Nijtmans
Functional Consequences of Mitochondrial tRNATrp and tRNAArg Mutations Causing Combined OXPHOS Defects
European Journal of Human Genetics
Genetics
Related publications
Investigating Functional Consequences of Novel Disease-Causing Mutations of CLCN7 Gene
Biophysical Journal
Biophysics
OXPHOS Defects Due to mtDNA Mutations: Glutamine to the Rescue!
Cell Metabolism
Cell Biology
Molecular Biology
Physiology
Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Functional Consequences of PRODH Missense Mutations
American Journal of Human Genetics
Genetics
Mitochondrial Diseases Part II: Mouse Models of OXPHOS Deficiencies Caused by Defects in Regulatory Factors and Other Components Required for Mitochondrial Function
Mitochondrion
Molecular Medicine
Cell Biology
Molecular Biology
Structural and Functional Consequences of Succinate Dehydrogenase Subunit B Mutations
Endocrine-Related Cancer
Cancer Research
Endocrinology
Oncology
Metabolism
Diabetes
Molecular Effects of Eya1 Domain Mutations Causing Organ Defects in BOR Syndrome
Human Molecular Genetics
Medicine
Genetics
Molecular Biology
Identification of Mutations Causing Temperature-Sensitive Defects in Semliki Forest Virus RNA Synthesis
Journal of Virology
Insect Science
Immunology
Microbiology
Virology
Combined Defects in Oxidative Phosphorylation and Fatty Acid -Oxidation in Mitochondrial Disease
Bioscience Reports
Biochemistry
Cell Biology
Molecular Biology
Biophysics
