Found: 10
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Nasal Airway Obstruction Study (NAIROS): a phase III, open-label, mixed-methods, multicentre randomised controlled trial of septoplasty versus medical management of a septal deviation with nasal obstruction.
- Published in:
- 2020
- By:
- Publication type:
- journal article
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3657, doi. 10.1172/JCI80657
- By:
- Publication type:
- Article
Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole.
- Published in:
- Clinical Kidney Journal, 2015, v. 8, n. 4, p. 453, doi. 10.1093/ckj/sfv028
- By:
- Publication type:
- Article
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
- Published in:
- Clinical Kidney Journal, 2015, v. 8, n. 1, p. 113, doi. 10.1093/ckj/sfu129
- By:
- Publication type:
- Article
Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044975
- By:
- Publication type:
- Article
Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family.
- Published in:
- NDT Plus, 2011, v. 4, n. 6, p. 421
- By:
- Publication type:
- Article
Clinical and Functional Characterization of URAT1 Variants.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028641
- By:
- Publication type:
- Article
Nephronophthisis: A Genetically Diverse Ciliopathy.
- Published in:
- International Journal of Nephrology, 2011, p. 1, doi. 10.4061/2011/527137
- By:
- Publication type:
- Article
Nephronophthisis: A Genetically Diverse Ciliopathy.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article