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    • Research Interests
    Neurodevelopmental D...Neurodevelopmental DisorderGenomicsPex11BCongenital CataractPeroxisome Biogenesi...Peroxisome Biogenesis Disorder202020152024
    20162023

    Papers共 19 篇Author StatisticsCo-AuthorSimilar Experts

    By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
    时间
    引用量
    主题
    期刊级别
    合作者
    合作机构
    All20242023202220202019201820172016201220082007
    De Novo Variants in KDM2A Cause a Syndromic Neurodevelopmental Disorder
    EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 8-9
    Cited0Views45WOSBibtex
    0
    45
    Mutations in the U2 Snrna Gene RNU2-2P Cause a Severe Neurodevelopmental Disorder with Prominent Epilepsy
    Daniel Greene, Koenraad De Wispelaere，Andrew D Mumford,Ernest Turro
    medRxiv the preprint server for health sciences (2024)
    Cited0Views7WOSBibtex
    0
    7
    Load More
    Author Statistics
    00.20.40.60.81#Papers#CitationH-IndexG-IndexSociabilityDiversityActivity

    #Papers: 19

    #Citation: 191

    H-Index: 6

    G-Index: 9

    Sociability: 7

    Diversity: 2

    Activity: 2

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    • 合作者
    • 学生
    • 导师
    Sally Ann Lynch合作论文数
    5
    Joanna Jarvis合作论文数
    5
    Elizabeth A Jones合作论文数
    5
    Mohnish Suri合作论文数
    5
    Pradeep C Vasudevan合作论文数
    5
    David FitzPatrick合作论文数
    MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh5
    Shane Mckee合作论文数
    Belfast e-Science Centre;University of Belfast;Belfast e-Science Centre, Queen ' s University of Belfast5
    Philip Greene合作论文数
    4
    Helen Stewart合作论文数
    4
    Tabib Dabir合作论文数
    4
    Jenny Morton合作论文数
    4
    Nicola Foulds合作论文数
    4
    Simon Holden合作论文数
    Addenbrookes Hosp, Cambridge, England4
    McConnell Vivienne合作论文数
    4
    Katherine Lachlan合作论文数
    4
    Andrew Jackson合作论文数
    Institute of Genetics and Cancer, University of Edinburgh4
    Caroline Pottinger合作论文数
    3
    Sarah Everest合作论文数
    3
    Lucy Harrison合作论文数
    3
    Chirag Vipinchandra Patel合作论文数
    3
    Rose Hawkins合作论文数
    3
    Rohan Taylor合作论文数
    3
    Ben Hutton合作论文数
    3
    Stewart Payne合作论文数
    3
    E Mcnerlan Susan合作论文数
    3
    Emma Shearing合作论文数
    3
    Stephen Hellens合作论文数
    3
    Debbie Rice合作论文数
    3
    Gemma Devlin合作论文数
    3
    Beckie Kaemba合作论文数
    3
    Vivienne Sutton合作论文数
    3
    Shalaka Samant合作论文数
    3
    Roldan Singzon合作论文数
    3
    Sarah Wallwark合作论文数
    3
    Lucy Hildyard合作论文数
    3
    Georgina Hollingsworth合作论文数
    3
    Jenny Thomson合作论文数
    3
    Emma Miles合作论文数
    3
    Rosemary Kelsell合作论文数
    3
    Stuart Ingram合作论文数
    3
    Kate Tatton-Brown合作论文数
    3
    Hood Mugalaasi合作论文数
    3
    Daniel Perrett合作论文数
    3
    Ajoy Sarkar合作论文数
    3
    Carol Gardiner合作论文数
    3
    Linda Sneddon合作论文数
    3
    Christopher Wragg合作论文数
    3
    Zara Skitt合作论文数
    3
    Lynn Greenhalgh合作论文数
    3
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