Resultats de la cerca - Roser Torrá
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New therapeutic options for Alport syndrome per Roser Torrá, Mónica Furlano
Publicat 2019Revisão -
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Diagnosis of autosomal dominant polycystic kidney disease using efficient <i>PKD1</i> and <i>PKD2</i> targeted next‐generation sequencing per Daniel Trujillano, Gemma Bullich, Stephan Ossowski, José Ballarín, Roser Torrá, Xavier Estivill, Elisabet Ars
Publicat 2014Artigo -
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Coordinate Expression of the Autosomal Dominant Polycystic Kidney Disease Proteins, Polycystin-2 And Polycystin-1, in Normal and Cystic Tissue per Albert Ong, Christopher J. Ward, Robin Butler, Simon Biddolph, Coleen Bowker, Roser Torrá, York Pei, Peter C. Harris
Publicat 1999Artigo -
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Prevalence of Cysts in Seminal Tract and Abnormal Semen Parameters in Patients with Autosomal Dominant Polycystic Kidney Disease per Roser Torrá, Joaquim Sàrquella, Jordi Calabia, Jordi MartiCombining Acute Accent, Elisabet Ars, Patricia Fernández‐Llama, José Ballarín
Publicat 2008Artigo -
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Acute renal failure associated to paroxysmal nocturnal haemoglobinuria leads to intratubular haemosiderin accumulation and CD163 expression per José Ballarín, Yolanda Arce, Roser Torra Balcells, Montserrat Díaz-Encarnación, F. Manzarbeitia, Alberto Ortíz, Jesús Egido, Juan Antonio Moreno
Publicat 2011Artigo -
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A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees per Sandro Rossetti, Roser Torrá, Eliécer Coto, Mark Consugar, Vickie Kubly, S Málaga, Mercedes Navarro, Mounif El‐Youssef, Vicente E. Torres, Peter C. Harris
Publicat 2003Artigo -
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Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome per Sheila Santín, Gemma Bullich, Bárbara Tazón‐Vega, Rafael García‐Maset, Isabel Giménez, Irene Silva, Patricia Ruíz, José Ballarín, Roser Torrá, Elisabet Ars
Publicat 2011Artigo -
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Long-term follow-up of renal function in patients treated with migalastat for Fabry disease per Daniel G. Bichet, Roser Torrá, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt‐Rasmussen, Raphael Schiffmann, Kathy Nicholls
Publicat 2021Artigo -
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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] per Daniel G. Bichet, Roser Torrá, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt‐Rasmussen, Raphael Schiffmann, Kathy Nicholls
Publicat 2021Errata/Corrigenda -
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Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome per Sheila Santín, Bárbara Tazón‐Vega, Irene Silva, María Ángeles Cobo, Isabel Giménez, Patricia Ruíz, Rafael García‐Maset, José Ballarín, Roser Torrá, Elisabet Ars
Publicat 2010Artigo -
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Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations per Johanna Temme, Frederik Peters, Katharina Lange, Yves Pirson, Laurence Heidet, Roser Torrá, Jean‐Pierre Grünfeld, Manfred Weber, Christoph Licht, G. A. Müller, Oliver Groß
Publicat 2012Artigo -
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Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity per Gemma Bullich, Daniel Trujillano, Sheila Santín, Stephan Ossowski, Santiago Mendizábal, Gloria Fraga, A. Madrid, Gema Ariceta, José Ballarín, Roser Torrá, Xavier Estivill, Elisabet Ars
Publicat 2014Artigo
Eines de cerca:
Matèries relacionades
Medicine
Internal medicine
Disease
Kidney
Biology
Pathology
Kidney disease
Genetics
Intensive care medicine
Autosomal dominant polycystic kidney disease
Gene
Polycystic kidney disease
Glomerulonephritis
Alport syndrome
Renal function
Endocrinology
PKD1
Urology
Fabry disease
Gastroenterology
Mutation
Autosomal Recessive Polycystic Kidney Disease
Compound heterozygosity
Computer science
Family medicine
Focal segmental glomerulosclerosis
Genetic testing
Law
Nephrotic syndrome
Phenotype