Søgeresultater - Jonathan Rodgers

  • Showing 1 - 2 results of 2
Refine Results
  1. 1
    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 af Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka

    Udgivet 2021
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  2. 2
    Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

    Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System af Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher Barnett, Jason Pinner, Sarah A. Sandaradura, Michael F. Buckley, Emma Krzesinski, M. De Silva, Gemma R. Brett, Kirsten Boggs, David Mowat, Edwin P. Kirk, Lesley C. Adès, Lauren Akesson, David J. Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, Alessandra Bray, Natasha J. Brown, Cheng Yee Chan, Belinda Chong, Corrina Cliffe, Martin B. Delatycki, Matthew Edwards, George Elakis, Michael Fahey, Andrew Fennell, Lindsay Fowles, Lyndon Gallacher, Megan Higgins, Katherine B. Howell, L. Hunt, Matthew F. Hunter, Kristi Jones, Sarah King, Smitha Kumble, Sarah Lang, Maelle Le Moing, Alan Ma, Dean Phelan, Michael C. Quinn, A. Mark Richards, Christopher M. Richmond, Jessica R. Riseley, Jonathan Rodgers, Rani Sachdev, Simon Sadedin, Luregn J. Schlapbach, Janine Smith, Amanda Springer, Natalie B. Tan, Tiong Yang Tan, Suzanna L. Temple, Christiane Theda, Anand Vasudevan, Susan M. White, Alison Yeung, Ying Zhu, Melissa Martyn, Stephanie Best, Tony Roscioli, John Christodoulou, Zornitza Stark

    Udgivet 2020
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:

Søgeredskaber: