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Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 10, p. 1149, doi. 10.3390/cells8101149
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- Publication type:
- Article
Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma.
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- Cells (2073-4409), 2019, v. 8, n. 6, p. 539, doi. 10.3390/cells8060539
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- Publication type:
- Article
Alterations of Oxidative Phosphorylation Complexes in Papillary Thyroid Carcinoma.
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- Cells (2073-4409), 2018, v. 7, n. 5, p. 40, doi. 10.3390/cells7050040
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- Publication type:
- Article
Melanoma tumors exhibit a variable but distinct metabolic signature.
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- Experimental Dermatology, 2018, v. 27, n. 2, p. 204, doi. 10.1111/exd.13465
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- Publication type:
- Article
Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma.
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- Carcinogenesis, 2004, v. 25, n. 6, p. 1005, doi. 10.1093/carcin/bgh104
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- Publication type:
- Article
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3618, doi. 10.1093/hmg/ddu072
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- Publication type:
- Article
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 ε subunit.
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- Human Molecular Genetics, 2010, v. 19, n. 17, p. 3430, doi. 10.1093/hmg/ddq254
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- Article
ifo Konjunkturprognose 2010: Deutsche Wirtschaft ohne Dynamik.
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- ifo Schnelldienst, 2009, v. 62, n. 24, p. 17
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- Publication type:
- Article
IFOCAST: Methoden der ifo-Kurzfristprognose.
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- ifo Schnelldienst, 2009, v. 62, n. 23, p. 15
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- Publication type:
- Article
Medienberichte als Konjunkturindikator.
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- ifo Schnelldienst, 2008, v. 61, n. 7, p. 17
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- Publication type:
- Article
Zur Evaluierung von VAR-Prognosen.
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- ifo Schnelldienst, 2007, v. 60, n. 7, p. 19
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- Publication type:
- Article
Deficient methylation and formylation of mt-tRNA<sup>Met</sup> wobble cytosine in a patient carrying mutations in NSUN3.
- Published in:
- Nature Communications, 2016, v. 7, n. 6, p. 12039, doi. 10.1038/ncomms12039
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- Publication type:
- Article
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00873-3
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- Publication type:
- Article
Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA<sup>Trp</sup> gene.
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- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 871, doi. 10.1038/ejhg.2012.272
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- Publication type:
- Article
Mitochondriopathien - neue Trends in Diagnostik und Therapie.
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- Medizinische Genetik, 2015, v. 27, n. 3, p. 282, doi. 10.1007/s11825-015-0061-3
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- Article
Treatable mitochondrial diseases: cofactor metabolism and beyond.
- Published in:
- 2017
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- Publication type:
- letter
CAD mutations and uridine-responsive epileptic encephalopathy.
- Published in:
- 2017
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- Publication type:
- journal article
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
- Published in:
- 2021
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- Publication type:
- journal article
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F<sub>1</sub>F<sub>o</sub> ATP synthase deficiency.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-38
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- Publication type:
- Article
Age at onset, extent of necrosis, and containment in Perthes disease: Results at maturity.
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- Archives of Orthopaedic & Trauma Surgery, 2003, v. 123, n. 2/3, p. 68, doi. 10.1007/s00402-002-0445-0
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- Publication type:
- Article
Severe depletion of mitochondrial DNA in spinal muscular atrophy.
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- Acta Neuropathologica, 2003, v. 105, n. 3, p. 245, doi. 10.1007/s00401-002-0638-1
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- Publication type:
- Article
Prognostic Value of Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
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- Genes, 2023, v. 14, n. 12, p. 2174, doi. 10.3390/genes14122174
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- Publication type:
- Article
Case Report—An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.
- Published in:
- 2023
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- Publication type:
- Case Study
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.
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- 2022
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- Publication type:
- Case Study
Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
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- EMBO Molecular Medicine, 2023, v. 15, n. 4, p. 1, doi. 10.15252/emmm.202216834
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- Publication type:
- Article
A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder.
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- EMBO Molecular Medicine, 2021, v. 13, n. 9, p. 1, doi. 10.15252/emmm.202114332
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- Publication type:
- Article
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
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- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
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- Publication type:
- Article
Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis.
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- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/1320241
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- Publication type:
- Article
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
- Published in:
- Nature Genetics, 2008, v. 40, n. 11, p. 1288, doi. 10.1038/ng.246
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- Publication type:
- Article
Operative management of sacroiliac joint dislocation in children with unstable pelvic fractures -- A STROBE-compliant investigation.
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- Journal of Orthopaedics, 2024, v. 52, p. 6, doi. 10.1016/j.jor.2024.02.004
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- Publication type:
- Article
Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.
- Published in:
- 2013
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- Publication type:
- Case Study
Possibilities and Challenges in Kinematic Modeling of Highly Redundant, Non-Holonomic and Omnidirectional Mobile Robots.
- Published in:
- PAMM: Proceedings in Applied Mathematics & Mechanics, 2014, v. 14, n. 1, p. 83, doi. 10.1002/pamm.201410029
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- Publication type:
- Article
On the Suitability of Different Online Gait Generation Methods for Pre-Defined Footsteps.
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- PAMM: Proceedings in Applied Mathematics & Mechanics, 2011, v. 11, n. 1, p. 55, doi. 10.1002/pamm.201110019
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- Publication type:
- Article
Mechanical Complication with Broviac Repair Kit in a 4-Year-Old Boy with MEN 2a.
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- International Journal of Pediatrics, 2009, p. 1, doi. 10.1155/2009/693583
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- Publication type:
- Article
ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 3, p. 389, doi. 10.1515/jpem-2020-0396
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- Publication type:
- Article
Replaceable Jejunal Feeding Tubes in Severely Ill Children.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01091-1
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- Publication type:
- Article
Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups.
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- Electrophoresis, 2006, v. 27, n. 19, p. 3864, doi. 10.1002/elps.200600086
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- Publication type:
- Article
Surgical Treatment of Maisonneuve Fractures.
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- European Journal of Trauma, 2006, v. 32, n. 2, p. 198, doi. 10.1007/s00068-006-0206-9
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- Publication type:
- Article
Musculoskeletal Ultrasound in Pediatric Trauma.
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- European Journal of Trauma, 2004, v. 30, n. 3, p. 150, doi. 10.1007/s00068-004-1350-8
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- Publication type:
- Article
Selbstwirksamkeit und Unterrichtsqualität. Unterricht und Persönlichkeitsaspekte von Lehrpersonen im Berufsübergang.
- Published in:
- Beiträge zur Lehrerinnen - und Lehrerbildung, 2018, v. 36, n. 2, p. 301
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- Publication type:
- Article
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 3, p. 553, doi. 10.1002/ccr3.2050
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- Publication type:
- Article
A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.
- Published in:
- Frontiers in Neurology, 2023, v. 13, p. 1, doi. 10.3389/fneur.2022.1063733
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- Publication type:
- Article
Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2018, p. 1, doi. 10.1155/2018/1347174
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- Publication type:
- Article
Functional Differences between Mitochondrial Haplogroup T and Haplogroup H in HEK293 Cybrid Cells.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052367
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- Publication type:
- Article
Mitochondrial Haplogroups and Control Region Polymorphisms in Age-Related Macular Degeneration: A Case-Control Study.
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- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030874
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- Publication type:
- Article
Mitochondrial Haplogroups, Control Region Polymorphisms and Malignant Melanoma: A Study in Middle European Caucasians.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0027192
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- Publication type:
- Article
The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations.
- Published in:
- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016455
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- Publication type:
- Article
Mitochondrial Haplogroups and Control Region Polymorphisms Are Not Associated with Prostate Cancer in Middle European Caucasians.
- Published in:
- PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006370
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- Publication type:
- Article
Laparoscopy-Assisted Single-Port Appendectomy in Children: Is the Postoperative Infectious Complication Rate Different?
- Published in:
- Journal of Laparoendoscopic & Advanced Surgical Techniques, 2010, v. 20, n. 10, p. 867, doi. 10.1089/lap.2010.0180
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- Publication type:
- Article