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THE SWITCH IN THE DIAGNOSIS OF MITOCHONDRIAL DISEASES FROM THE CLASSICAL 'FUNCTION FIRST' TO THE NGSBASED 'GENETICS FIRST' DIAGNOSTIC ERA.
- Published in:
- Journal of Mother & Child, 2020, v. 24, n. 2, p. 47, doi. 10.34763/jmotherandchild.20202402si.2005.000008
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- Publication type:
- Article
Antegrade scrotal sclerotherapy for treating primary varicocele in children.
- Published in:
- BJU International, 2006, v. 97, n. 4, p. 809, doi. 10.1111/j.1464-410X.2006.06033.x
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- Publication type:
- Article
Actinomyces neuii Isolated From a 20-Month-Old Girl With Cervical Lymphadenitis.
- Published in:
- 2015
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- Publication type:
- Case Study
Causes and consequences of pedestrian injuries in children.
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- European Journal of Pediatrics, 2003, v. 162, n. 3, p. 184, doi. 10.1007/s00431-002-1099-1
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- Publication type:
- Article
Bunk beds--a still underestimated risk for accidents in childhood?
- Published in:
- 2000
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- Publication type:
- journal article
Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
- Published in:
- 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
Age-Related Deterioration of Mitochondrial Function in the Intestine.
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- Oxidative Medicine & Cellular Longevity, 2020, p. 1, doi. 10.1155/2020/4898217
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- Publication type:
- Article
Laparoscopy-Assisted Single-Port Appendectomy in Children: Is the Postoperative Infectious Complication Rate Different?
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- 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
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0254-5
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- Publication type:
- Article
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
- Published in:
- 2015
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- Publication type:
- journal article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0119-3
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- Publication type:
- Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- 2014
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- Publication type:
- journal 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
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
- Published in:
- 2016
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- Publication type:
- journal 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
Alterations of oxidative phosphorylation complexes in astrocytomas.
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- Glia, 2014, v. 62, n. 4, p. 514, doi. 10.1002/glia.22621
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- Publication type:
- Article
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
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- Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991
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- Publication type:
- Article
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
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- Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991
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- Publication type:
- Article
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency.
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- Metabolites (2218-1989), 2024, v. 14, n. 4, p. 238, doi. 10.3390/metabo14040238
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- Publication type:
- Article
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.
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- Metabolites (2218-1989), 2023, v. 13, n. 11, p. 1141, doi. 10.3390/metabo13111141
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- Publication type:
- Article
Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease.
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- Oxidative Medicine & Cellular Longevity, 2022, p. 1, doi. 10.1155/2022/9151169
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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
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00873-3
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- Publication type:
- Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
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- Publication type:
- Article
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3162, doi. 10.1002/ajmg.a.36766
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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
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
Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer.
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- Oxidative Medicine & Cellular Longevity, 2018, p. 1, doi. 10.1155/2018/1347174
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- Publication type:
- Article
Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model.
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- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129802
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- Publication type:
- Article
Functional Differences between Mitochondrial Haplogroup T and Haplogroup H in HEK293 Cybrid Cells.
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- 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.
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- 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.
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- 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.
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- PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006370
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- Publication type:
- Article
Die Behandlung der Condylus-radialis-humeri-Fraktur im Kindesalter.
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- Operative Orthopädie und Traumatologie, 2010, v. 22, n. 1, p. 81, doi. 10.1007/s00064-010-3006-2
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- Publication type:
- Article
Die Behandlung der Apophysenabrissverletzung des Epicondylus ulnaris im Kindesalter.
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- Operative Orthopädie und Traumatologie, 2006, v. 18, n. 2, p. 120, doi. 10.1007/s00064-006-1166-2
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- Publication type:
- Article
Die operative Behandlung der Maisonneuve-Verletzung.
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- Operative Orthopädie und Traumatologie, 2004, v. 16, n. 4, p. 433, doi. 10.1007/s00064-004-1118-7
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- Publication type:
- Article
Investigating the role of ASCC1 in the causation of bone fragility.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1137573
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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
Kommentar.
- Published in:
- Praxis (16618157), 2014, v. 103, n. 2, p. 107
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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.
- Published in:
- 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
Sonoanatomy of the Achilles tendon insertion in children.
- Published in:
- 2004
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- Publication type:
- journal article
Mitochondriopathien - neue Trends in Diagnostik und Therapie.
- Published in:
- Medizinische Genetik, 2015, v. 27, n. 3, p. 282, doi. 10.1007/s11825-015-0061-3
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- Publication type:
- Article
Mitochondrial Disease and Hearing Loss in Children: A Systematic Review.
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- Laryngoscope, 2022, v. 132, n. 12, p. 2459, doi. 10.1002/lary.30067
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- Publication type:
- Article
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
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