Výsledky vyhledávání - Béryl Royer‐Bertrand

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  1. 1
    UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation

    UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation Autor Carlo Rivolta, Béryl Royer‐Bertrand, Donata Rimoldi, Ann Schalenbourg, Léonidas Zografos, Serge Leyvraz, Alexandre Moulin

    Vydáno 2015
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  2. 2
    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders Autor Mathieu Quinodoz, Béryl Royer‐Bertrand, Katarina Cisarova, Silvio Alessandro Di Gioia, Andrea Superti‐Furga, Carlo Rivolta

    Vydáno 2017
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  3. 3
    CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

    CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations Autor Béryl Royer‐Bertrand, Katarina Cisarova, Florence Niel‐Bütschi, Lauréane Mittaz‐Crettol, Heidi Fodstad, Andrea Superti‐Furga

    Vydáno 2021
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  4. 4
    Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

    Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity Autor Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Béryl Royer‐Bertrand, Peter D. Stenson, D.N. Cooper, Sheila Unger, Andrea Superti‐Furga, Carlo Rivolta

    Vydáno 2022
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  5. 5
    AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

    AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data Autor Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luísa Coutinho Santos, Andrea Superti‐Furga, Carlo Rivolta

    Vydáno 2021
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  6. 6
    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia Autor Béryl Royer‐Bertrand, Silvia Castillo‐Taucher, Rodrigo Moreno-Salinas, Tae‐Joon Cho, Jong‐Hee Chae, Murim Choi, Ok-Hwa Kim, Esra Dikoglu, Belinda Campos‐Xavier, Enrico Girardi, Giulio Superti‐Furga, Luisa Bonafé, Carlo Rivolta, Sheila Unger, Andrea Superti‐Furga

    Vydáno 2015
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  7. 7
    Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing

    Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing Autor Béryl Royer‐Bertrand, Matteo Torsello, Donata Rimoldi, Ikram El Zaoui, Katarina Cisarova, Rosanna Pescini Gobert, Franck Raynaud, Léonidas Zografos, Ann Schalenbourg, Daniel E. Speiser, Michaël Nicolas, Laureen Vallat, Robert J. Klein, Serge Leyvraz, Giovanni Ciriello, Nicolò Riggi, Alexandre Moulin, Carlo Rivolta

    Vydáno 2016
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  8. 8
    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects Autor Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Béryl Royer‐Bertrand, Martial Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani Blazaki, Muhammad Imran Khan, Shazia Micheal, Karsten Boldt, Marius Ueffing, Alexandre Moulin, Frans P.M. Cremers, Ronald Roepman, Yvan Arsenijévic, Miltiadis K. Tsilimbaris, Sten Andréasson, Carlo Rivolta

    Vydáno 2016
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  9. 9
    Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

    Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator Autor Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Béryl Royer‐Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E. Speck‐Martins, Daniel R. Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos‐Xavier, Carole Chiesa, Florence Niel‐Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael I. Robson, Alessa R. Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey, Cesar A. Prada‐Medina, Rosanna Pescini Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, Andrea Superti‐Furga

    Vydáno 2021
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  10. 10
    <i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delay

    <i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delay Autor Stefano Volpi, Yasuhiro Yamazaki, Patrick M. Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Prisni Rath, Nicole Luche, Elliott J. Hagedorn, Antonella Buoncompagni, Béryl Royer‐Bertrand, Silvia Giliani, Pietro Luigi Poliani, Luisa Imberti, Kerry Dobbs, Fabienne E. Poulain, Alberto Martini, John P. Manis, Robert J. Linhardt, Marita Bosticardo, Sergio D. Rosenzweig, Hane Lee, Jennifer M. Puck, Juan Carlos Zúñiga‐Pflücker, Leonard I. Zon, Pyong Woo Park, Andrea Superti‐Furga, Luigi D. Notarangelo

    Vydáno 2017
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  11. 11
    NANS-mediated synthesis of sialic acid is required for brain and skeletal development

    NANS-mediated synthesis of sialic acid is required for brain and skeletal development Autor Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Sara Balzano, Béryl Royer‐Bertrand, Angel Ashikov, Livia Garavelli, Isabella Mammi, Licia Turolla, Catherine Breen, Dian Donnai, Valérie Cormier‐Daire, Delphine Héron, Gen Nishimura, Shinichi Uchikawa, Belinda Campos‐Xavier, Antonio Rossi, Thierry Hennet, Koroboshka Brand‐Arzamendi, Jacob Rozmus, Keith Harshman, Brian J. Stevenson, Enrico Girardi, Giulio Superti‐Furga, Tammie Dewan, Alissa Collingridge, Jessie Halparin, Colin J.D. Ross, Margot I. Van Allen, Andrea Rossi, Udo F. H. Engelke, Leo A. J. Kluijtmans, E. van der Heeft, G. Herma Renkema, Arjan de Brouwer, Karin Huijben, Fokje Zijlstra, Torben Heise, Thomas J. Boltje, Wyeth W. Wasserman, Carlo Rivolta, Sheila Unger, Dirk J. Lefeber, Ron A. Wevers, Andrea Superti‐Furga

    Vydáno 2016
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