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PLoS Genetics, ISSN 1553-7390, 2016, Volume 12, Issue 1, p. e1005679
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 02/2019, Volume 64, Issue 2, pp. 113 - 125
Mitochondrial diseases are inherited metabolic diseases based on disorders of energy production. The expansion of exome analyses has led to the discovery of... 
ENCEPHALOPATHY | PYRUVATE THERAPY | LEIGH-SYNDROME | CLINICAL-TRIALS | GENETICS & HEREDITY | COMPLEX I DEFICIENCY | LACTIC-ACIDOSIS | MUTATIONS | COENZYME-Q | INBORN ERROR | RESPIRATORY-CHAIN DISORDERS
Journal Article
Journal of drug delivery, ISSN 2090-3014, 2017, Volume 2017, pp. 1892725 - 6
Among inhaled asthma therapies, the present study aimed to identify factors for selecting the type of inhalation therapy for asthma. Three methods are used to... 
Drugs | Complications and side effects | Drug delivery systems | Respiratory agents | Dosage and administration | Research | Drug therapy | Asthma | Vehicles
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 11/2016, Volume 61, Issue 11, pp. 959 - 963
In the search for sequence variants underlying disease, commonly applied filtering steps usually result in a number of candidate variants that cannot further... 
GENOMEWIDE SCANS | HOMOZYGOSITY | DNA | LENGTH | GENETICS & HEREDITY | HAMMING DISTANCE | TRUE | MUTATIONS | SEQUENCING DATA | FALSE-POSITIVE PEAKS | CHILDREN | Computational Biology - methods | Genetic Predisposition to Disease | Pedigree | Humans | Genetic Association Studies - methods | Genotype | Software | Genes, Recessive | Case-Control Studies | Genetic Linkage
Journal Article
neurogenetics, ISSN 1364-6745, 3/2019, Volume 20, Issue 1, pp. 55 - 56
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2017, Volume 40, Issue 5, pp. 685 - 693
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 10549 - 11
Mitochondrial respiratory chain complexes II, III, and IV and cytochrome c contain haem, which is generated by the insertion of Fe2+ into protoporphyrin IX.... 
CELLS | HEME OXYGENASE-1 | METABOLISM | EXPRESSION | GLUCOSE | MULTIDISCIPLINARY SCIENCES | Phosphorylation | Copy number | Heme oxygenase (decyclizing) | Oxygen consumption | mRNA | Iron | Mitochondrial DNA | Aminolevulinic acid | Citric acid | Cytochrome c | Oxygenase | Mitochondria | Protoporphyrin | Oxidative phosphorylation | Sodium | Fibroblasts | Protoporphyrin IX | Electron transport
Journal Article
NEUROGENETICS, ISSN 1364-6745, 03/2019, Volume 20, Issue 1, pp. 55 - 56
Journal Article
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, ISSN 0165-5876, 08/2018, Volume 111, pp. 194 - 194
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 08/2018, Volume 111, pp. 194 - 194
Journal Article
Journal Article