检索结果 - Yannis Trakadis

  • Showing 1 - 5 results of 5
Refine Results
  1. 1
    Phenylalanine hydroxylase deficiency

    Phenylalanine hydroxylase deficiency 由 John J. Mitchell, Yannis Trakadis, Charles R. Scriver

    出版 2011
    获取全文
    Revisão
    加到收藏夹
    Saved in:
  2. 2
    Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

    Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups 由 Sara D. Khangura, Kylie Tingley, Pranesh Chakraborty, Doug Coyle, Jonathan B. Kronick, Anne‐Marie Laberge, Julian Little, Fiona A. Miller, John J. Mitchell, Chitra Prasad, Shabnaz Siddiq, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stöckler, Yannis Trakadis, Brenda J. Wilson, Kumanan Wilson, Beth K. Potter

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study 由 Shabnaz Siddiq, Brenda J. Wilson, Ian D. Graham, Monica Lamoureux, Sara D. Khangura, Kylie Tingley, Laure Tessier, Pranesh Chakraborty, Doug Coyle, Sarah Dyack, Jane Gillis, Cheryl R. Greenberg, Robin Z. Hayeems, Shailly Jain‐Ghai, Jonathan B. Kronick, Anne‐Marie Laberge, Julian Little, John J. Mitchell, Chitra Prasad, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stöckler, Yannis Trakadis, S. Wafa, Jagdeep S. Walia, Kumanan Wilson, Nataliya Yuskiv, Beth K. Potter

    出版 2016
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Family‐centred care interventions for children with chronic conditions: A scoping review

    Family‐centred care interventions for children with chronic conditions: A scoping review 由 Andrea Chow, Ammar Saad, Zobaida Al‐Baldawi, Ryan Iverson, Becky Skidmore, Isabel Jordán, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Jamie Brehaut, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Cheryl R. Greenberg, Robin Z. Hayeems, Brian Hutton, Michal Inbar‐Feigenberg, Shailly Jain‐Ghai, Sara D. Khangura, Jennifer MacKenzie, John J. Mitchell, Zeinab Moazin, Stuart G. Nicholls, Amy Pender, Chitra Prasad, Andreas Schulze, Komudi Siriwardena, Rebecca N. Sparkes, Kathy N. Speechley, Sylvia Stöckler, Monica Taljaard, Mari Teitelbaum, Yannis Trakadis, Clara van Karnebeek, Jagdeep S. Walia, Kumanan Wilson, Beth K. Potter

    出版 2024
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  5. 5
    PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

    PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production 由 Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka‐Turski, Tianyun Wang, Tzung‐Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M. W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley C. Adès, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie‐José H. van den Boogaard, Jennifer Wambach, D.J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C. Towne, Kristine Bachman, Andrea Seeley, Anita Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hákon Hákonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René G. Feichtinger, Johannes A. Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François V. Bolduc, Elke Krüger, Stéphane Bézieau

    出版 2023
    获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: