Found: 14
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The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 16, p. 3218, doi. 10.1093/hmg/ddt175
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- Article
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
- Published in:
- Nature Communications, 2016, v. 7, n. 6, p. 12003, doi. 10.1038/ncomms12003
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- Article
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
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- Nature Communications, 2015, v. 6, n. 7, p. 7870, doi. 10.1038/ncomms8870
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- Article
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1219, doi. 10.1038/ejhg.2013.40
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- Article
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 352, doi. 10.1038/ejhg.2012.137
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- Article
Regulatory regions of the paraoxonase 1 ( PON1) gene are associated with neovascular age-related macular degeneration (AMD).
- Published in:
- Age, 2013, v. 35, n. 5, p. 1651, doi. 10.1007/s11357-012-9467-x
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- Article
Correlation between recent thymic emigrants and CD31.
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- European Journal of Immunology, 2007, v. 37, n. 11, p. 3270, doi. 10.1002/eji.200636976
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- Article
Impact of Loading Phase, Initial Response and CFH Genotype on the Long-Term Outcome of Treatment for Neovascular Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0042014
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- Article
Identification of Iodotyrosines as Novel Substrates for the Thyroid Hormone Transporter MCT8.
- Published in:
- Thyroid, 2024, v. 34, n. 7, p. 931, doi. 10.1089/thy.2023.0551
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- Article
Vascular changes in the cerebellum of Norrin / Ndph knockout mice correlate with high expression of Norrin and Frizzled-4.
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- European Journal of Neuroscience, 2008, v. 27, n. 10, p. 2619, doi. 10.1111/j.1460-9568.2008.06237.x
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- Article
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 323, doi. 10.1002/humu.24174
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- Article
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4203, doi. 10.1093/hmg/ddx310
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- Article
Effect of Concurrent Vitamin A and Iodine Deficiencies onthe Thyroid-Pituitary Axis in Rats.
- Published in:
- Thyroid, 2006, v. 16, n. 10, p. 961, doi. 10.1089/thy.2006.16.961
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- Article
Organ-Specific Expression of Maize Adhl Is Altered After a Mu Transposon Insertion.
- Published in:
- Genetics, 1987, v. 116, n. 3, p. 469
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- Article