Found: 14
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Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3v EGF-like repeat domains.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 280, doi. 10.1038/sj.ejhg.5200460
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- Publication type:
- Article
PCR Analysis of T. whippelii DNA in a Case of Whipple's Disease: Effect of Antibiotics and Correlation With Histology.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1998, v. 93, n. 9, p. 1579, doi. 10.1111/j.1572-0241.1998.00416.x
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- Publication type:
- Article
Selective Methylation of CpGs at Regulatory Binding Sites Controls <i>NNAT</i> Expression in Wilms Tumors.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067605
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- Publication type:
- Article
A Key Role for E-cadherin in Intestinal Homeostasis and Paneth Cell Maturation.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0014325
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- Publication type:
- Article
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
- Published in:
- Clinical Research in Cardiology, 2011, v. 100, n. 12, p. 1087, doi. 10.1007/s00392-011-0345-9
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- Publication type:
- Article
Mitochondria and Ageing.
- Published in:
- Brain Pathology, 1992, v. 2, n. 2, p. 149, doi. 10.1111/j.1750-3639.1992.tb00683.x
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- Publication type:
- Article
Human Aging is Associated with Various Point Mutations in tRNA Genes of Mitochondrial DNA.
- Published in:
- Biological Chemistry, 1993, v. 374, n. 7-12, p. 1099
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- Publication type:
- Article
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 7, p. 1108, doi. 10.1007/s00415-010-5471-1
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- Publication type:
- Article
Variable reduction of caveolin-3 in patients with LGMD2B/MM.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 12, p. 1431, doi. 10.1007/s00415-003-0234-x
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- Publication type:
- Article
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA<sup>ser(UCN)</sup> gene.
- Published in:
- Annals of Neurology, 1998, v. 44, n. 4, p. 635, doi. 10.1002/ana.410440409
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- Publication type:
- Article
Defects of cytochrome c oxidase in the substantia nigra of Parkinson's disease: An immunohistochemical and morphometric study.
- Published in:
- Movement Disorders, 1997, v. 12, n. 1, p. 9, doi. 10.1002/mds.870120104
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- Publication type:
- Article
Myocardial perfusion imaging is feasible for infarct size quantification in mice using a clinical single-photon emission computed tomography system equipped with pinhole collimators.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Erratum to: Myocardial Perfusion Imaging is Feasible for Infarct Size Quantification in Mice Using a Clinical Single-photon Emission Computed Tomography System Equipped with Pinhole Collimators.
- Published in:
- 2010
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- Publication type:
- Correction notice
Cytochrome c oxidasedeficiency due to mutations in SCO2, encoding amitochondrial copper-binding protein, is rescued by copper in humanmyoblasts.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 26, p. 3025, doi. 10.1093/hmg/10.26.3025
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- Publication type:
- Article