Torthaí cuardaigh - R. K. Koenekoop

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  1. 1
    Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

    Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness de réir Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy, Shenghao Cao, Somayyeh Fahiminiya, Haitao Ren, Ian M. MacDonald, I. López, Vincent Sun, Vafa Keser, Ayesha Khan, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Kateřina Hodaňová, Lenka Piherová, Ladislav Kuchař, A Baxová, R Chen, Orlando Graziani Póvoas Barsottini, Angela Pyle, Helen Griffin, Miranda Splitt, Juliana Maria Ferraz Sallum, John Tolmie, Julian R. Sampson, Patrick F. Chinnery, Kym M. Boycott, Alex MacKenzie, Michael Brudno, Dennis E. Bulman, David A. Dyment, Eyal Banin, Dror Sharon, Sayantanee Dutta, Rudi Grebler, C. Helfrich-Foerster, José Luiz Pedroso, Doris Kretzschmar, Michel Cayouette, R. K. Koenekoop

    Foilsithe / Cruthaithe 2015
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    Artigo
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  2. 2
    Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

    Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care de réir Sarah L. Sawyer, Taila Hartley, David A. Dyment, Chandree L. Beaulieu, Jeremy Schwartzentruber, Amanda Smith, H. Melanie Bedford, Geneviève Bernard, François Bernier, Bernard Brais, Dennis E. Bulman, Jodi Warman‐Chardon, David Chitayat, Johnny Deladoëy, Bridget A. Fernandez, Patrick Frosk, Michael T. Geraghty, Brenda Gerull, William T. Gibson, Robert M. Gow, Gail E. Graham, Jane S. Green, Elise Héon, Gabriella Horváth, A. Micheil Innes, Nada Jabado, Raymond H. Kim, R. K. Koenekoop, Aneal Khan, Ordan J. Lehmann, Roberto Mendoza‐Londono, Jacques L. Michaud, Sarah M. Nikkel, Lynette S. Penney, Constantin Polychronakos, Julie Richer, Guy A. Rouleau, Mark E. Samuels, Victoria Mok Siu, Oksana Suchowersky, Mark A. Tarnopolsky, Grace Yoon, Farah Zahir, Jacek Majewski, Kym M. Boycott

    Foilsithe / Cruthaithe 2015
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    Revisão
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