Found: 16
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Implications of genome-wide association studies in novel therapeutics in primary biliary cirrhosis.
- Published in:
- European Journal of Immunology, 2014, v. 44, n. 4, p. 945, doi. 10.1002/eji.201344270
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- Article
Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis.
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- PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007833
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- Article
FP049 SELF-MONITORING OF URINE SPECIFIC GRAVITY USING STUDY SMARTPHONE APPLICATIONS PROMOTES ADHERENCE TO HIGH WATER THERAPY AND FACILITATES REMOTE DATA CAPTURE IN THE DRINK RANDOMISED TRIAL.
- Published in:
- Nephrology Dialysis Transplantation, 2019, v. 34, p. N.PAG, doi. 10.1093/ndt/gfz106.FP049
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- Article
Somatic mosaicism and the phenotypic expression of COL2A1 mutations.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1204, doi. 10.1002/ajmg.a.35303
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- Article
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
- Published in:
- Nature Genetics, 2012, v. 44, n. 10, p. 1137, doi. 10.1038/ng.2395
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- Article
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
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- 2011
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- Correction Notice
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 329, doi. 10.1038/ng.789
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- Article
Carboxy Terminal Tail of Polycystin-1 Regulates Localization of TSC2 to Repress mTOR.
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- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009239
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- Article
Developing a patient-centred tool for pain measurement and evaluation in autosomal dominant polycystic kidney disease.
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- Clinical Kidney Journal, 2021, v. 14, n. 11, p. 2338, doi. 10.1093/ckj/sfaa259
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- Article
Patient Survey of current water Intake practices in autosomal dominant Polycystic kidney disease: the SIPs survey.
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- Clinical Kidney Journal, 2017, v. 10, n. 3, p. 305, doi. 10.1093/ckj/sfw153
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- Article
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).
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- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1873, doi. 10.1093/hmg/ddt041
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- Article
Pathogenic uromodulin mutations result in premature intracellular polymerization.
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- FEBS Letters, 2015, v. 589, n. 1, p. 89, doi. 10.1016/j.febslet.2014.11.029
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- Article
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease.
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- Genes, 2021, v. 12, n. 9, p. 1414, doi. 10.3390/genes12091414
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- Article
The diversity of PKD1 alleles: implications for disease pathogenesis and genetic counseling.
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- Kidney International, 2009, v. 75, n. 8, p. 765, doi. 10.1038/ki.2009.17
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- Article
A high-resolution structure of the EF-hand domain of human polycystin-2.
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- Protein Science: A Publication of the Protein Society, 2014, v. 23, n. 9, p. 1301, doi. 10.1002/pro.2513
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- Article
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
- Published in:
- BMC Nephrology, 2012, v. 13, n. 1, p. 79, doi. 10.1186/1471-2369-13-79
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- Article