657 results on '"Torra, Roser"'
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2. Clinical management of liver cyst infections: an international, modified Delphi-based clinical decision framework
3. [Genetic study in young patients with chronic kidney disease stage G5 from unknown etiology. The GENSEN study design
4. Estudio genético en pacientes jóvenes con enfermedad renal crónica avanzada de etiología no filiada. Diseño del estudio GENSEN
5. Reassuring pregnancy outcomes in women with mild COL4A3-5–related disease (Alport syndrome) and genetic type of disease can aid personalized counseling
6. The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants
7. An Artificial Intelligence Generated Automated Algorithm to Measure Total Kidney Volume in ADPKD
8. Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
9. Correction: The 2019 and 2021 International workshops on Alport syndrome
10. Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease
11. A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene
12. #1936 Investigating genetic and environmental modifiers of autosomal dominant polycystic kidney disease through a distinct PKD2-founder variant (p.Arg803*)
13. #2068 Factors affecting disease progression in individuals with heterozygous COL4A3/COL4A4 pathogenic variants
14. #2259 Preimplantation genetic testing in inherited kidney diseases
15. #2327 Extent of proteinuria in autosomal dominant Alport syndrome compared to X linked Alport syndrome
16. #198 Different patterns of renal thrombotic microangiopathy
17. The 2019 and 2021 International Workshops on Alport Syndrome
18. Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020
19. Documento de consenso de poliquistosis renal autosómica dominante del grupo de trabajo de enfermedades hereditarias de la Sociedad Española de Nefrología. Revisión 2020
20. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
21. Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
22. 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
23. Kidney health matters: a global imperative for public health.
24. Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
25. FollowME Fabry Pathfinders Registry: Renal effectiveness in a cohort of patients on migalastat treatment for at least three years
26. Reassuring pregnancy outcomes in women with mild COL4A3-5 related disease (Alport Syndrome) as the genetic type of disease can aid personalized counseling.
27. Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy
28. Are Kidney Cysts More Frequent in Individuals With COL4A3-COL4A4 Pathogenic Variants?: PUB197
29. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
30. Recommendations for the management of renal involvement in tuberous sclerosis complex
31. Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa
32. Nephrology Partnership for Advancing Technology in Healthcare (N-PATH) program: the teachers’ perspective
33. Replacing a kidney biopsy by exome sequencing in undetermined kidney diseases – not yet ready for prime time!
34. An Artificial Intelligence Generated Automated Algorithm to Measure Total Kidney Volume in ADPKD
35. Cardiovascular risk factors and the impact on prognosis in patients with chronic kidney disease secondary to autosomal dominant polycystic kidney disease
36. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people
37. MYH9 Associated nephropathy
38. Nefropatía asociada a mutación del gen MYH9
39. Replacing a kidney biopsy by exome sequencing in undetermined kidney diseases—not yet ready for prime time!
40. Nephrology Partnership for Advancing Technology in Healthcare (N-PATH) program: the teachers' perspective.
41. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
42. Why do we keep ignoring sex in kidney disease?
43. Artificial intelligence: a new field of knowledge for nephrologists?
44. Expert consensus guidelines for the genetic diagnosis of Alport syndrome
45. Reply to Comments on the SENefro Consensus Document on Autosomal Dominant Polycystic Kidney Disease
46. ‘The forgotten sex’: gender disparities in kidney disease
47. Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
48. A review on autosomal dominant tubulointerstitial kidney disease
49. Artificial intelligence: a new field of knowledge for nephrologists?
50. A coordinated transition model for patients with cystinosis: from pediatric to adult care
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