380 results on '"Halbritter, Jan"'
Search Results
2. HYDROchlorothiazide versus placebo to PROTECT polycystic kidney disease patients and improve their quality of life: study protocol and rationale for the HYDRO-PROTECT randomized controlled trial
3. SGLT2-Inhibition in Patients With Alport Syndrome
4. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group
5. KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
6. Clinical management of liver cyst infections: an international, modified Delphi-based clinical decision framework
7. Pathogenic PHIP Variants are Variably Associated With CAKUT
8. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
9. Deceased donor urinary Dickkopf-3 associates with future allograft function following kidney transplantation
10. The impact of treatment with avacopan on health-related quality of life in antineutrophil cytoplasmic antibody-associated vasculitis: a post-hoc analysis of data from the ADVOCATE trial
11. Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly
12. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
13. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
14. Metabolische Diagnostik
15. Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
16. #787 Kidney genetics—a reproducible and curated database of kidney-disease associated genes
17. #276 ADTKD genetic diagnostics in Europe: where do we stand and what is needed?
18. #1936 Investigating genetic and environmental modifiers of autosomal dominant polycystic kidney disease through a distinct PKD2-founder variant (p.Arg803*)
19. #1472 Prevalence of Mendelian and non-Mendelian forms of genetic disease in a Swiss cohort of adult kidney stone formers
20. #2613 Clinical spectrum and prognosis of the atypical polycystic kidney disease caused by monoallelic loss-of-function IFT140 variants
21. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
22. Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
23. Nephrolithiasis
24. Autoren
25. Genetics of kidney stone disease—Polygenic meets monogenic
26. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group
27. HYDROchlorothiazide versus placebo to PROTECT polycystic kidney disease patients and improve their quality of life:study protocol and rationale for the HYDRO-PROTECT randomized controlled trial
28. Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
29. Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease
30. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
31. The genetics of cystinuria – an update and critical reevaluation
32. Urinary stone disease: closing the heritability gap by challenging conventional Mendelian inheritance
33. Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome
34. The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development
35. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
36. Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting
37. Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis
38. The impact of treatment with avacopan on health-related quality of life in antineutrophil cytoplasmic antibody-associated vasculitis: a post-hoc analysis of data from the ADVOCATE trial
39. The genetics of cystinuria - an update and critical reevaluation.
40. Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome.
41. #5496 EVALUATION OF THE PREDICTIVE ABILITY AND CONCORDANCE OF PROGNOSTIC SCORES FOR RAPID PROGRESSION IN ADPKD: A MULTICENTER COHORT
42. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
43. Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting
44. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
45. Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation
46. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
47. Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation
48. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
49. Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis
50. KidneyNetwork: Using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
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