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25 results on '"Sandford, Richard"'

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1. Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing

2. Ideas of the future and their place in young people's internal conversation

3. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

4. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

7. Anti–Cholestatic Therapy with Obeticholic Acid Improves Short-Term Memory in Bile Duct–Ligated Mice

8. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

9. Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

10. The relationship between disease activity and UDCA response criteria in primary biliary cholangitis: A cohort study

11. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

13. P32 Statistical colocalization identifies twenty-four novel risk loci associated with disease risk of primary biliary cholangitis

14. Identification of potential targets amenable to novel therapeutics to treat symptoms in primary biliary cholangitis

15. Bacterial and metabolic phenotypes associated with inadequate response to ursodeoxycholic acid treatment in primary biliary cholangitis

16. Corrigendum to: “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs” [J Hepatol 75 (2021) 572-581]

17. Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells

18. Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells

20. Research priorities for autosomal dominant polycystic kidney disease: a UK priority setting partnership

21. FRI-331 - Identification of potential targets amenable to novel therapeutics to treat symptoms in primary biliary cholangitis

22. Establishing a core outcome measure for pain in patients with autosomal dominant polycystic kidney disease: a consensus workshop report.

23. Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581]

24. Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

25. Anti-Cholestatic Therapy with Obeticholic Acid Improves Short-Term Memory in Bile Duct-Ligated Mice

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