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    • Research Interests
    Systematic ReviewProlidase DeficiencyPepd GeneGeneticsUsher Syndrome202020152025
    20162024

    Papers共 21 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
    All2024202320222021202020192016
    3Q29 Duplications: A Cohort of 46 Patients and a Literature Review
    AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 7 (2024)
    Cited0Views34WOSBibtex
    0
    34
    Missense Variants in ANO4 Cause Sporadic Encephalopathic or Familial Epilepsy with Evidence for a Dominant-Negative Effect
    Fang Yang,Anais Begemann，Olaf Strauss,Anita Rauch
    The American Journal of Human Geneticsno. 6 (2024): 1184-1205
    Cited0Views19WOSBibtex
    0
    19
    Prenatal and Neonatal Phenotype of Larsen of La Réunion Island Syndrome (B4GALT7- Linkeropathy)
    Jean-Luc Alessandri,Tristan Celse，Berenice Doray, Jessica Dospeux
    European Journal of Medical Geneticspp.104940-104940, (2024)
    Cited0Views10WOSBibtex
    0
    10
    Clinical and Genomic Delineation of the New Proximal 19p13.3 Microduplication Syndrome
    AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 1 (2023): 52-63
    Cited1Views48WOSBibtex
    1
    48
    Compound Genetic Etiology in a Patient with a Syndrome Including Diabetes, Intellectual Deficiency and Distichiasis
    University of Lille, CRESTIC EA , University of Reims Champagne Ardenne,Spodenkiewicz Marta, Cornillet Lefebvre Pascale, Mouhoub Tarik Ait, 1 rue Louis Rech Dudelange,Juttet Pauline,Souchon Pierre François, EA , URCA
    Orphanet journal of rare diseases（2022）
    Cited0Views31WOSBibtex
    0
    31
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    Author Statistics
    00.20.40.60.81#Papers#CitationH-IndexG-IndexSociabilityDiversityActivity

    #Papers: 21

    #Citation: 189

    H-Index: 6

    G-Index: 10

    Sociability: 6

    Diversity: 2

    Activity: 3

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    • 合作者
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