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Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects.
- Published in:
- Biomedicines, 2021, v. 9, n. 7, p. 788, doi. 10.3390/biomedicines9070788
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- Publication type:
- Article
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
- Published in:
- 2018
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- Publication type:
- journal article
Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria.
- Published in:
- Metabolomics, 2012, v. 8, n. 5, p. 951, doi. 10.1007/s11306-011-0391-3
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- Publication type:
- Article
Double gene deletion reveals lack of cooperation between claudin 11 and claudin 14 tight junction proteins.
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- Cell & Tissue Research, 2008, v. 333, n. 3, p. 427, doi. 10.1007/s00441-008-0621-9
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- Publication type:
- Article
The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15.
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- Journal of Neuroscience, 2006, v. 26, n. 26, p. 7022, doi. 10.1523/JNEUROSCI.1163-06.2006
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- Publication type:
- Article
XDH gene mutation is the underlying cause of classical xanthinuria: A second report.
- Published in:
- Kidney International, 2000, v. 57, n. 6, p. 2215, doi. 10.1046/j.1523-1755.2000.00082.x
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- Publication type:
- Article