Hakutulokset - Pilar Cacheiro

Knockout mice are an important tool for human monogenic heart disease studies Tekijä Pilar Cacheiro, Nadine Spielmann, Hamed Haseli Mashhadi, Helmut Fuchs, Valerie Gailus-Durner, Damian Smedley, Martin Hrabĕ de Angelis

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Computational identification of disease models through cross-species phenotype comparison Tekijä Pilar Cacheiro, Diego Pava, Helen Parkinson, Maya VanZanten, Robert Wilson, Osman Gunes, the International Mouse Phenotyping Consortium, Damian Smedley

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Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay Tekijä Søren H Hough, Satpal S Jhujh, Samah W Awwad, Oliver E Lewis, Simon Lam, John C Thomas, Thorsten Mosler, Aldo Bader, Lauren Bartik, Shane McKee, Shivarajan Amudhavalli, Estelle Colin, Nadirah Damseh, Emma Clement, Pilar Cacheiro, Anirban Majumdar, Damian Smedley, Joël Fluss, Rosalinda Giannini, Isabelle Thiffault, Guido Zagnoli Vieira, Rimma Belotserkovskaya, Stephen J Smerdon, Petra Beli, Yaron Galanty, Christopher J Carnie, Grant S Stewart, Stephen P Jackson

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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery Tekijä Daniel Danis, Michael J. Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh C. Carmody, Leonardo Chimirri, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter J. Freeman, Adam S.L. Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Christopher J. Mungall, Monica C. Munoz-Torres, Justin T. Reese, Filip Rehburg, Bárbara C.S. Reis, Catharina Schuetz, Damian Smedley, Timmy Strauss, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F. Wagstaff, David Zocche, Melissa A. Haendel, Peter N. Robinson

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