检索结果 - Ariane Standing

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  1. 1
    Monogenic mimics of Behçet’s disease in the young

    Monogenic mimics of Behçet’s disease in the young 由 Charalampia Papadopoulou, Ebun Omoyinmi, Ariane Standing, Clare Pain, Claire Booth, Felice D’Arco, Kimberly Gilmour, Matthew Buckland, Despina Eleftheriou, Paul Brogan

    出版 2018
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  2. 2
    Brief Report: Whole‐Exome Sequencing Revealing Somatic <i>NLRP3</i> Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome

    Brief Report: Whole‐Exome Sequencing Revealing Somatic <i>NLRP3</i> Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome 由 Ebun Omoyinmi, Sónia Gomes, Ariane Standing, Dorota Rowczenio, Despina Eleftheriou, Nigel Klein, Juan I. Aróstegui, Helen J. Lachmann, Philip N. Hawkins, Paul Brogan

    出版 2013
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  3. 3
    Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases

    Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases 由 Sira Nanthapisal, Claire Murphy, Ebun Omoyinmi, Ying Hong, Ariane Standing, Stefan Berg, Maria Ekelund, Stephen Jolles, Lorraine Harper, Taryn Youngstein, Kimberly Gilmour, Nigel Klein, Despina Eleftheriou, Paul Brogan

    出版 2016
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  4. 4
    Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <i>WDR1 </i>

    Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <i>WDR1 </i> 由 Ariane Standing, Dessislava Malinova, Ying Hong, Julien Record, Dale Moulding, Michael P. Blundell, Karolin Nowak, Hannah E. Jones, Ebun Omoyinmi, Kimberly Gilmour, Alan Medlar, Horia Stanescu, Robert Kleta, Glenn Anderson, Sira Nanthapisal, Sónia Gomes, Nigel Klein, Despina Eleftheriou, Adrian J. Thrasher, Paul Brogan

    出版 2016
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  5. 5
    Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

    Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis 由 Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sónia Gomes, Dorota Rowczenio, Sira Nanthapisal, Thomas Cullup, Rodney Nyanhete, Emma Ashton, Claire Murphy, Megan A. Clarke, Helena Ahlfors, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J. Lachmann, Philip N. Hawkins, Nigel Klein, Paul Brogan

    出版 2017
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