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Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype. by Monica Vall-Palomar, Julieta Torchia, Jordi Morata, Monica Durán, Raul Tonda, Mireia Ferrer, Alex Sánchez, Gerard Cantero-Recasens, Gema Ariceta, Anna Meseguer, Cristina Martinez
Published 2025-04-01Get full text
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An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element. by Alex Clop, Anna Bertoni, Sarah L Spain, Michael A Simpson, Venu Pullabhatla, Raul Tonda, Christian Hundhausen, Paola Di Meglio, Pieter De Jong, Adrian C Hayday, Frank O Nestle, Jonathan N Barker, Robert J A Bell, Francesca Capon, Richard C Trembath
Published 2013-01-01Get full text
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Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis by Alison S. Devonshire, Jordi Morata, Claire Jubin, Rui Pedro Abreu Pereira, Laura Hernandez-Hernandez, Dilek Yener, Eric Cabannes, Steven McGinn, Marc Delepine, Cédric Fund, Raúl Tonda, Simon Heath, Marc Dabad, Javier Gutierrez-Cuesta, Ignacio Sanchez Escudero, Maria Cristina Frias-Lopez, Simon Cowen, Alexandra Whale, Thorsten Voss, Jean-François Deleuze, Ivo Gut, Marta Gut, Carole A. Foy
Published 2025-07-01Get full text
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Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma. by Aitana Avendaño Pomares, Laura Rodríguez Merino, Sonia González, Jordi Morata, Raúl Tonda, Patricia Arribas, José Revert, Estrella Carrillo, Carlos Grande, Josep Maria Roncero, Jaime Pérez de Oteyza, Concepción Nicolás, Norma Gutierrez, Pau Abrisqueta, Antonio Gutiérrez, Ángel Ramírez-Páyer, Alejandro Martin Garcia-Sancho, Eva González-Barca, Santiago Montes-Moreno, GELTAMO group (Grupo Español de Linfomas y Trasplante Autólogo de Medula Osea), Spain
Published 2025-01-01Get full text
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Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma by Aitana Avendaño Pomares, Laura Rodríguez Merino, Sonia González, Jordi Morata, Raúl Tonda, Patricia Arribas, José Revert, Estrella Carrillo, Carlos Grande, Josep Maria Roncero, Jaime Pérez de Oteyza, Concepción Nicolás, Norma Gutierrez, Pau Abrisqueta, Antonio Gutiérrez, Ángel Ramírez-Páyer, Alejandro Martin Garcia-Sancho, Eva González-Barca, Santiago Montes-Moreno, on behalf of GELTAMO group (Grupo Español de Linfomas y Trasplante Autólogo de Medula Osea), Spain
Published 2025-01-01Get full text
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