Found: 13
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Understanding the role of the Q338H MUTYH variant in oxidative damage repair.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 7, p. 4093, doi. 10.1093/nar/gkt130
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- Article
Specificity of ε and Non-ε Isoforms of <i>Arabidopsis</i> 14-3-3 Proteins Towards the H<sup>+</sup>-ATPase and Other Targets.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090764
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- Article
Prion Protein Paralog Doppel Protein Interacts with Alpha-2-Macroglobulin: A Plausible Mechanism for Doppel-Mediated Neurodegeneration.
- Published in:
- PLoS ONE, 2009, v. 4, n. 6, p. 1, doi. 10.1371/journal.pone.0005968
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- Article
Registries or non-pharmacological observational studies? An operational attempt to draw the line and to provide some suggestions for the ethical evaluation of rare disease registries.
- Published in:
- Annali dell'Istituto Superiore di Sanita, 2024, v. 60, n. 1, p. 29, doi. 10.4415/ANN_24_01_05
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- Article
The Italian registry for patients with Prader–Willi syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02633-5
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- Article
Phosphorylation on threonine 11 of β-dystrobrevin alters its interaction with kinesin heavy chain.
- Published in:
- FEBS Journal, 2012, v. 279, n. 22, p. 4131, doi. 10.1111/febs.12006
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- Article
Concerted mutation of Phe residues belonging to the β-dystroglycan ectodomain strongly inhibits the interaction with α-dystroglycan in vitro.
- Published in:
- FEBS Journal, 2006, v. 273, n. 21, p. 4929, doi. 10.1111/j.1742-4658.2006.05492.x
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- Article
The role of loop ZA and Pro371 in the function of yeast Gcn5p bromodomain revealed through molecular dynamics and experiment.
- Published in:
- Journal of Molecular Recognition, 2006, v. 19, n. 1, p. 1, doi. 10.1002/jmr.748
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- Article
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5814, doi. 10.1093/hmg/ddu299
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- Article
Recommendations for Improving the Quality of Rare Disease Registries.
- Published in:
- International Journal of Environmental Research & Public Health, 2018, v. 15, n. 8, p. 1644, doi. 10.3390/ijerph15081644
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- Article
The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases.
- Published in:
- International Journal of Environmental Research & Public Health, 2018, v. 15, n. 7, p. 1470, doi. 10.3390/ijerph15071470
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- Article
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 2018, doi. 10.1093/hmg/ddn099
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- Article
Retinoblastoma-independent antiproliferative activity of novel intracellular antibodies against the E7 oncoprotein in HPV 16-positive cells.
- Published in:
- BMC Cancer, 2011, v. 11, n. 1, p. 1, doi. 10.1186/1471-2407-11-17
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- Article