966 results on '"Torra, Roser'
Search Results
2. Estudio genético en pacientes jóvenes con enfermedad renal crónica avanzada de etiología no filiada. Diseño del estudio GENSEN
3. 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
4. Clinical management of liver cyst infections: an international, modified Delphi-based clinical decision framework
5. Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report
6. Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso
7. [Genetic study in young patients with chronic kidney disease stage G5 from unknown etiology. The GENSEN study design
8. Estudio genético en pacientes jóvenes con enfermedad renal crónica avanzada de etiología no filiada. Diseño del estudio GENSEN
9. Reassuring pregnancy outcomes in women with mild COL4A3-5–related disease (Alport syndrome) and genetic type of disease can aid personalized counseling
10. The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants
11. An Artificial Intelligence Generated Automated Algorithm to Measure Total Kidney Volume in ADPKD
12. Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease
13. A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene
14. Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
15. Correction: The 2019 and 2021 International workshops on Alport syndrome
16. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
17. The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants
18. A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene
19. #1936 Investigating genetic and environmental modifiers of autosomal dominant polycystic kidney disease through a distinct PKD2-founder variant (p.Arg803*)
20. #2068 Factors affecting disease progression in individuals with heterozygous COL4A3/COL4A4 pathogenic variants
21. #2259 Preimplantation genetic testing in inherited kidney diseases
22. #2327 Extent of proteinuria in autosomal dominant Alport syndrome compared to X linked Alport syndrome
23. #198 Different patterns of renal thrombotic microangiopathy
24. The 2019 and 2021 International Workshops on Alport Syndrome
25. Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020
26. Documento de consenso de poliquistosis renal autosómica dominante del grupo de trabajo de enfermedades hereditarias de la Sociedad Española de Nefrología. Revisión 2020
27. EASL Clinical Practice Guidelines on the management of cystic liver diseases
28. Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020
29. Documento de consenso de poliquistosis renal autosómica dominante del grupo de trabajo de enfermedades hereditarias de la Sociedad Española de Nefrología. Revisión 2020
30. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
31. Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
32. Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
33. Kidney health matters: a global imperative for public health.
34. Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
35. Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy
36. FollowME Fabry Pathfinders Registry: Renal effectiveness in a cohort of patients on migalastat treatment for at least three years
37. Reassuring pregnancy outcomes in women with mild COL4A3-5 related disease (Alport Syndrome) as the genetic type of disease can aid personalized counseling.
38. Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy
39. An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International
40. Are Kidney Cysts More Frequent in Individuals With COL4A3-COL4A4 Pathogenic Variants?: PUB197
41. Reply to Comments on the SENefro Consensus Document on Autosomal Dominant Polycystic Kidney Disease
42. Respuesta a Comentarios sobre el Documento de Consenso de Poliquistosis Renal Autosómica Dominante de la SENefro
43. 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
44. Cardiovascular risk factors and the impact on prognosis in patients with chronic kidney disease secondary to autosomal dominant polycystic kidney disease
45. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
46. Recommendations for the management of renal involvement in tuberous sclerosis complex
47. Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa
48. Nephrology Partnership for Advancing Technology in Healthcare (N-PATH) program: the teachers’ perspective
49. Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso
50. Replacing a kidney biopsy by exome sequencing in undetermined kidney diseases – not yet ready for prime time!
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.