检索结果 - Roser Torrá

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  1. 1
    New therapeutic options for Alport syndrome

    New therapeutic options for Alport syndrome 由 Roser Torrá, Mónica Furlano

    出版 2019
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  2. 2
    A Review of the Imaging Techniques for Measuring Kidney and Cyst Volume in Establishing Autosomal Dominant Polycystic Kidney Disease Progression

    A Review of the Imaging Techniques for Measuring Kidney and Cyst Volume in Establishing Autosomal Dominant Polycystic Kidney Disease Progression 由 Riccardo Magistroni, Cristiana Corsi, Teresa Sordé, Roser Torrá

    出版 2018
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  3. 3
    Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

    Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports 由 Roser Torrá, Mónica Furlano, Alberto Ortíz, Elisabet Ars

    出版 2021
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  4. 4
    Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation Rapid Communication

    Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation Rapid Communication 由 Roser Torrá, Célia Bádenas, Alejandro Darnell, Concepció Brú, Àngels Escorsell, Xavier Estivill

    出版 1997
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  5. 5
    Diagnosis of autosomal dominant polycystic kidney disease using efficient <i>PKD1</i> and <i>PKD2</i> targeted next‐generation sequencing

    Diagnosis of autosomal dominant polycystic kidney disease using efficient <i>PKD1</i> and <i>PKD2</i> targeted next‐generation sequencing 由 Daniel Trujillano, Gemma Bullich, Stephan Ossowski, José Ballarín, Roser Torrá, Xavier Estivill, Elisabet Ars

    出版 2014
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  6. 6
    Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.

    Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. 由 Roser Torrá, Célia Bádenas, A Darnell, Carlos Nicolau, V. Volpini, L Revert, Xavier Estivill

    出版 1996
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  7. 7
    Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial

    Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial 由 Cristina Cabrera-López, Teresa Sordé, Violeta Catalá, Ferràn Torres, Silvia Mateu, José Ballarín, Roser Torrá

    出版 2012
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  8. 8
    Clinical management of female patients with Fabry disease based on expert consensus

    Clinical management of female patients with Fabry disease based on expert consensus 由 Eva Brand, Aleš Linhart, Patrick Deegan, Ruxandra Jurcuţ, Antonio Pisani, Roser Torrá, Ulla Feldt‐Rasmussen

    出版 2025
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  9. 9
    Coordinate Expression of the Autosomal Dominant Polycystic Kidney Disease Proteins, Polycystin-2 And Polycystin-1, in Normal and Cystic Tissue

    Coordinate Expression of the Autosomal Dominant Polycystic Kidney Disease Proteins, Polycystin-2 And Polycystin-1, in Normal and Cystic Tissue 由 Albert Ong, Christopher J. Ward, Robin Butler, Simon Biddolph, Coleen Bowker, Roser Torrá, York Pei, Peter C. Harris

    出版 1999
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  10. 10
    Prevalence of Cysts in Seminal Tract and Abnormal Semen Parameters in Patients with Autosomal Dominant Polycystic Kidney Disease

    Prevalence of Cysts in Seminal Tract and Abnormal Semen Parameters in Patients with Autosomal Dominant Polycystic Kidney Disease 由 Roser Torrá, Joaquim Sàrquella, Jordi Calabia, Jordi MartiCombining Acute Accent, Elisabet Ars, Patricia Fernández‐Llama, José Ballarín

    出版 2008
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  11. 11
    Acute renal failure associated to paroxysmal nocturnal haemoglobinuria leads to intratubular haemosiderin accumulation and CD163 expression

    Acute renal failure associated to paroxysmal nocturnal haemoglobinuria leads to intratubular haemosiderin accumulation and CD163 expression 由 José Ballarín, Yolanda Arce, Roser Torra Balcells, Montserrat Díaz-Encarnación, F. Manzarbeitia, Alberto Ortíz, Jesús Egido, Juan Antonio Moreno

    出版 2011
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  12. 12
    HLA-DQA1 and PLA2R1 Polymorphisms and Risk of Idiopathic Membranous Nephropathy

    HLA-DQA1 and PLA2R1 Polymorphisms and Risk of Idiopathic Membranous Nephropathy 由 Gemma Bullich, José Ballarín, Artur Oliver, Nadia Ayasreh, Irene Silva, Sheila Santín, Montserrat Díaz-Encarnación, Roser Torrá, Elisabet Ars

    出版 2013
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  13. 13
    Artificial intelligence: a new field of knowledge for nephrologists?

    Artificial intelligence: a new field of knowledge for nephrologists? 由 Leonor Fayos de Arizón, Elizabeth Viera, Melissa Pilco Teran, Alexandre Perera-Lluna, Gabriel de Maeztu, Anna Nicolau, Mónica Furlano, Roser Torrá

    出版 2023
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  14. 14
    A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

    A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees 由 Sandro Rossetti, Roser Torrá, Eliécer Coto, Mark Consugar, Vickie Kubly, S Málaga, Mercedes Navarro, Mounif El‐Youssef, Vicente E. Torres, Peter C. Harris

    出版 2003
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  15. 15
    Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome

    Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome 由 Sheila Santín, Gemma Bullich, Bárbara Tazón‐Vega, Rafael García‐Maset, Isabel Giménez, Irene Silva, Patricia Ruíz, José Ballarín, Roser Torrá, Elisabet Ars

    出版 2011
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  16. 16
    Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

    Long-term follow-up of renal function in patients treated with migalastat for Fabry disease 由 Daniel G. Bichet, Roser Torrá, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt‐Rasmussen, Raphael Schiffmann, Kathy Nicholls

    出版 2021
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  17. 17
    Corrigendum to “Long-term follow-up of renal function in patients treated with migalastat for Fabry disease” [Bichet et al., MGM Reports; 28 (2021) 100786]

    Corrigendum to “Long-term follow-up of renal function in patients treated with migalastat for Fabry disease” [Bichet et al., MGM Reports; 28 (2021) 100786] 由 Daniel G. Bichet, Roser Torrá, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt‐Rasmussen, Raphael Schiffmann, Kathy Nicholls

    出版 2021
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  18. 18
    Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome

    Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome 由 Sheila Santín, Bárbara Tazón‐Vega, Irene Silva, María Ángeles Cobo, Isabel Giménez, Patricia Ruíz, Rafael García‐Maset, José Ballarín, Roser Torrá, Elisabet Ars

    出版 2010
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  19. 19
    Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

    Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations 由 Johanna Temme, Frederik Peters, Katharina Lange, Yves Pirson, Laurence Heidet, Roser Torrá, Jean‐Pierre Grünfeld, Manfred Weber, Christoph Licht, G. A. Müller, Oliver Groß

    出版 2012
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  20. 20
    Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

    Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity 由 Gemma Bullich, Daniel Trujillano, Sheila Santín, Stephan Ossowski, Santiago Mendizábal, Gloria Fraga, A. Madrid, Gema Ariceta, José Ballarín, Roser Torrá, Xavier Estivill, Elisabet Ars

    出版 2014
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