検索結果 - Juliana Teo

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  1. 1
    Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

    Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1 著者: Yiran Guo, Melissa Kartawinata, Jiankang Li, Hilda A. Pickett, Juliana Teo, Tatjana Kilo, Pasquale Barbaro, Brendan J. Keating, Yulan Chen, Lifeng Tian, Ahmad Alodaib, Roger R. Reddel, John Christodoulou, Xun Xu, Hákon Hákonarson, Tracy M. Bryan

    出版事項 2014
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    Artigo
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  2. 2
    LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

    LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure 著者: Lisa G. Riley, Joëlle Rudinger‐Thirion, Klaus Schmitz‐Abe, David R. Thorburn, Ryan L. Davis, Juliana Teo, Susan Arbuckle, Sandra T. Cooper, Dean R. Campagna, Magali Frugier, Kyriacos Markianos, Carolyn M. Sue, Mark D. Fleming, John Christodoulou

    出版事項 2015
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    Artigo
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  3. 3
    A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

    A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias 著者: Noémi Roy, Edward A. Wilson, Shirley Henderson, Katherine Wray, Christian Babbs, Steven Okoli, Wale Atoyebi, Avery Mixon, Mary R. Cahill, Peter Carey, Jonathan Cullis, Julie Curtin, Hélène Dreau, David Ferguson, Brenda Gibson, Georgina Hall, Joanne Mason, Mary Morgan, Melanie Proven, Amrana Qureshi, Joaquín Sánchez‐Garcia, Nongnuch Sirachainan, Juliana Teo, Ulf Tedgård, Douglas R. Higgs, David J. Roberts, Irene Roberts, Anna Schuh

    出版事項 2016
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    Artigo
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