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    • Research Interests
    GeneticsPrimary AmenorrheaPrimary Ovarian Insu...Primary Ovarian InsufficiencyDelayed PubertySpinal Muscular Atro...Spinal Muscular Atrophy201019992023
    20002022

    Papers共 54 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
    All20222021202020192018201720152014201320122011201020092008200720052004200220012000
    The Genetic Landscape of Crystallins in Congenital Cataract
    Moorfields Eye Hospital NHS Foundation Trust,Ionides Alex,Yu Jing,Ocaka Louise A., University of California School of Medicine,Quinlan Roy A.
    Orphanet journal of rare diseases（2020）
    Cited29Views28WOSBibtex
    29
    28
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    The American Journal of Human Geneticsno. 2 (2017): 281-296
    Cited58Views74WOSBibtex
    58
    74
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    Author Statistics
    00.20.40.60.81#Papers#CitationH-IndexG-IndexSociabilityDiversityActivity

    #Papers: 54

    #Citation: 1838

    H-Index: 24

    G-Index: 42

    Sociability: 6

    Diversity: 3

    Activity: 2

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    • 合作者
    • 学生
    • 导师
    Chiara Bacchelli合作论文数
    13
    Sylvia Bhattacharya合作论文数
    12
    Ordan J. Lehmann合作论文数
    Dept Ophthalmol, Univ Alberta11
    Roger A. Hitchings合作论文数
    11
    Stephanie Halford合作论文数
    Medical Sciences Division, University of Oxford10
    Donna S Mackay合作论文数
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine in St. Louis9
    Chela Tandiwe James合作论文数
    Centre for Translational Omics-GOSgene, Genetics and Genomic Medicine, UCL Institute of Child Health9
    Polona Le Quesne Stabej合作论文数
    9
    Andrew Webster合作论文数
    Institute of Ophthalmology, Faculty of Brain Sciences, University College London8
    Nd Ebenezer合作论文数
    7
    Tony Moore合作论文数
    Institute of Ophthalmology, Faculty of Brain Sciences, University College London;European Vision Institute7
    Aung Tin合作论文数
    Centre for Vision Research, Duke-NUS Medical School;Singapore National Eye Centre;Singapore Eye Research Institute;Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore5
    Peng Khaw合作论文数
    Institute of Ophthalmology, University College London;Moorfields Eye Hospital5
    David Hunt合作论文数
    School of Biological Sciences, The University of Western Australia5
    Tim Jordan合作论文数
    5
    Phil Beales合作论文数
    Department of Genetics & Genomic Medicine, Great Ormond Street Institute of Child Health, University College London;Axovia Therapeutics;P4 Precision Medicine Accelerator;Congenica;Bardet-Biedl Syndrome UK5
    AH Child合作论文数
    4
    Andrey Gagunashvili合作论文数
    UCL Great Ormond St Inst Child Hlth, GOSgene, Genet & Genom Med, London WC1N 1EH, England4
    Anne Child合作论文数
    4
    Arundhati Dev Borman合作论文数
    4
    Robert Kleta合作论文数
    Division of Medicine, Faculty of Medical Sciences, University College London4
    Mehul Dattani合作论文数
    Molecular Basis of Rare Diseases Section, Great Ormond Street Insitute of Child Health, University College London4
    Annette Margaret Payne合作论文数
    Institute of Ophthalmology, University College London4
    Domenico Incarnato合作论文数
    Laboratory of Animal Cytogenetics and Gene Mapping Via Argine, National Research Council (CNR),4
    Francesco Lescai合作论文数
    Dipartimento di Patologia Sperimentale, Università di Bologna4
    Anthony G. Robson合作论文数
    Moorfields Eye Hospital4
    Maria Bitner-Glindzicz合作论文数
    4
    Horia Stanescu合作论文数
    Division of Medicine, University College London4
    Hywel Williams合作论文数
    Centre of Evidence Based Dermatology, Faculty of Medicine & Health Sciences, University of Nottingham;School of Medicine, University of Nottingham4
    J Bellingham合作论文数
    3
    Estelle Chanudet合作论文数
    3
    Ebenezer Neil D合作论文数
    3
    Jane Louise Hurst合作论文数
    Institute of Infection, Veterinary and Ecological Sciences, Faculty of Health & Life Sciences, University of Liverpool3
    Graham E Holder合作论文数
    Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore;University of Sydney Medical School;Institute of Ophthalmology, University College London3
    Russell Foster合作论文数
    Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford3
    Marcela Votruba合作论文数
    School of Optometry & Vision Science, Cardiff University3
    Gerard Conway合作论文数
    3
    Peter J. Francis合作论文数
    3
    Panagiotis I. Sergouniotis合作论文数
    Institute of Ophthalmology, University College London3
    Glen Brice合作论文数
    3
    Phillip Moradi合作论文数
    3
    Cosma Spalluto合作论文数
    Istituto di Genetica, Università di Bari3
    R.S. Roginski合作论文数
    2
    B. K. Mohan Raj合作论文数
    2
    J. C. Menninger合作论文数
    2
    I. Roberts合作论文数
    2
    M.R. Sutherland-Smith合作论文数
    2
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