Torthaí cuardaigh - Valérie Race

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  1. 1
    Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

    Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing de réir Simon Ardui, Valérie Race, Alena Zablotskaya, Matthew S. Hestand, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris Vermeesch

    Foilsithe / Cruthaithe 2016
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    Artigo
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  2. 2
    Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

    Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway de réir Claire Hart, Valérie Race, Younès Achouri, Elsa Wiame, Mark Sharrard, S. E. Olpin, Jennifer Scaturo Watkinson, James R. Bonham, Jaak Jaeken, Gert Matthijs, Emile Van Schaftingen

    Foilsithe / Cruthaithe 2007
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    Artigo
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  3. 3
    Erratum: Guidelines for diagnostic next-generation sequencing

    Erratum: Guidelines for diagnostic next-generation sequencing de réir Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    Foilsithe / Cruthaithe 2016
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    Errata/Corrigenda
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  4. 4
    Guidelines for diagnostic next-generation sequencing

    Guidelines for diagnostic next-generation sequencing de réir Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    Foilsithe / Cruthaithe 2015
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  5. 5
    Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype

    Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype de réir Eline Blommaert, Romain Péanne, Н. А. Черепанова, Daisy Rymen, Frederik Staels, Jaak Jaeken, Valérie Race, Liesbeth Keldermans, Erika Souche, Anniek Corveleyn, Rebecca Sparkes, Kaustuv Bhattacharya, Christine Devalck, Rik Schrijvers, François Foulquier, Reid Gilmore, Gert Matthijs

    Foilsithe / Cruthaithe 2019
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  6. 6
    MAN1B1 Deficiency: An Unexpected CDG-II

    MAN1B1 Deficiency: An Unexpected CDG-II de réir Daisy Rymen, Romain Péanne, María Beatriz Bistué Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa B. Mills, Peter T. Clayton, Carla Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie‐Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloğlu, Jaak Jaeken, François Foulquier, Gert Matthijs

    Foilsithe / Cruthaithe 2013
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  7. 7
    TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

    TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation de réir François Foulquier, Mustapha Amyere, Jaak Jaeken, Renate Zeevaert, Els Schollen, Valérie Race, Riet Bammens, Willy Morelle, Claire Rosnoblet, Dominique Legrand, Didier Demaegd, Neil R.M. Buist, David Cheillan, Nathalie Guffon, Pierre Morsomme, Willem Annaert, Hudson H. Freeze, Emile Van Schaftingen, Miikka Vikkula, Gert Matthijs

    Foilsithe / Cruthaithe 2012
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  8. 8
    Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

    Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines de réir Emiliano Giardina, Pilar Camaño, Sarah Burton‐Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J. van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R. Davis, Ichizo Nishino, Piraye Oflazer, Valérie Race, Venugopalan Y. Vishnu, Victoria Williams, Cláudia Ferreira da Rosa Sobreira, Silvère M. van der Maarel, Steven A. Moore, Nicol C. Voermans, Richard J.L.F. Lemmers

    Foilsithe / Cruthaithe 2024
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    Revisão
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  9. 9
    ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

    ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients de réir Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, José E. Abdenur, Füsun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O’Connor, Gregory M. Cooper, Rudy Van Coster, Laurie Demmer, Luísa Diogo, Alexander Fay, Can Fıçıcıoğlu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip James, Daniel Katz, Liesbeth Keldermans, Maria Kibæk, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito‐Lee, Deborah A. Nickerson, Heidi Peters, Valérie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan Sparks, Pamela Trapane, Amarilis Sanchez‐Valle, Éric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy Yang, Gert Matthijs, Hudson H. Freeze

    Foilsithe / Cruthaithe 2016
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