檢索結果 - Richard Sandford
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The PLAT domain: a new piece in the PKD1 puzzle 由 Alex Bateman, Richard Sandford
出版 1999Carta -
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A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model 由 Phil McEwan, Hayley Bennett, Albert Ong, Bjarne Ørskov, Richard Sandford, Francesco Scolari, Maria-Cristina V. Cabrera, Gerd Walz, Karl O’Reilly, Paul Robinson
出版 2018Artigo -
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The inter‐relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis 由 Jessica Dyson, Nina Wilkinson, Laura Jopson, George Mells, Andrew Bathgate, M. Heneghan, James Neuberger, Gideon M. Hirschfield, SJ Ducker, Richard Sandford, Graeme Alexander, Deborah Stocken, Diana Jones
出版 2016Artigo -
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Impact of primary biliary cirrhosis on perceived quality of life: The UK-PBC national study 由 George Mells, Greta Pells, Julia L. Newton, Andrew Bathgate, Andrew K. Burroughs, Michael A. Heneghan, James Neuberger, Darren B. Day, Samantha Ducker, Richard Sandford, Graeme Alexander, David Jones
出版 2013Artigo -
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Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2) 由 Roman Hossein Khonsari, Atsushi Ohazama, Ramin Raouf, Maiko Kawasaki, Katsushige Kawasaki, Thantrira Porntaveetus, Sarah Ghafoor, Peter Hammond, Michael Suttie, Guillaume Odri, Richard Sandford, John N. Wood, Paul T. Sharpe
出版 2013Artigo -
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Sex and Age Are Determinants of the Clinical Phenotype of Primary Biliary Cirrhosis and Response to Ursodeoxycholic Acid 由 Marco Carbone, George Mells, Greta Pells, Muhammad F. Dawwas, Julia L. Newton, Michael A. Heneghan, James Neuberger, Darren B. Day, Samantha Ducker, Richard Sandford, Graeme Alexander, D. I. Jones
出版 2012Artigo -
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The impact of liver transplantation on the phenotype of primary biliary cirrhosis patients in the UK-PBC cohort 由 Greta Pells, George Mells, Marco Carbone, Julia L. Newton, Andrew Bathgate, Andrew K. Burroughs, Michael A. Heneghan, James Neuberger, Darren B. Day, Samantha Ducker, Richard Sandford, Graeme Alexander, D. I. Jones
出版 2013Artigo -
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Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation 由 Michael Köttgen, Thomas Benzing, Thomas Simmen, Robert Tauber, Bjoern Buchholz, Sylvain Féliciangéli, Tobias B. Huber, Bernhard Schermer, Albrecht Kramer-Zucker, Katja Höpker, Katia Carmine Simmen, Christoph Carl Tschucke, Richard Sandford, Emily Kim, Gary Thomas, Gerd Walz
出版 2005Artigo -
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Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations 由 James M. Polke, Matilde Laurá, Davide Pareyson, Franco Taroni, M Milani, Giorgia Bergamin, V.S. Gibbons, Henry Houlden, S.C. Chamley, J. Blake, Catherine DeVile, Richard Sandford, Mary G. Sweeney, Mary B. Davis, Mary M. Reilly
出版 2011Artigo
相關主題
Biology
Medicine
Internal medicine
Genetics
Gene
Disease
Kidney
Autosomal dominant polycystic kidney disease
Cohort
Gastroenterology
PKD1
Polycystic kidney disease
Endocrinology
Genotype
Primary sclerosing cholangitis
Pathology
Primary biliary cirrhosis
Single-nucleotide polymorphism
Cell biology
Ursodeoxycholic acid
Allele
Biochemistry
Chemistry
Genome-wide association study
Phenotype
Genome
Immunology
Kidney disease
Liver transplantation
Locus (genetics)