檢索結果 - Cathrine Jespersgaard

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    A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

    A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 由 Karen Grønskov, Cathrine Jespersgaard, Gitte Hoffmann Bruun, Pernille Harris, Karen Brøndum‐Nielsen, Brage Storstein Andresen, Thomas Rosenberg

    出版 2019
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    Genome-wide peripheral blood leukocyte DNA methylation microarrays identified a single association with inflammatory bowel diseases

    Genome-wide peripheral blood leukocyte DNA methylation microarrays identified a single association with inflammatory bowel diseases 由 R. Alan Harris, Dorottya Nagy‐Szakal, Natalia Pedersen, Antone R. Opekun, Jiří Bronský, Pia Munkholm, Cathrine Jespersgaard, PaalSkytt Andersen, Béla Melegh, George D. Ferry, Tine Jess, Richárd Kellermayer

    出版 2012
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    Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

    Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy 由 Cathrine Jespersgaard, Mingyan Fang, Mette Bertelsen, Xiao Dang, Hanne Jensen, Yulan Chen, Niels Bech, Lanlan Dai, Thomas Rosenberg, Jianguo Zhang, Lisbeth Birk Møller, Zeynep Tümer, Karen Brøndum‐Nielsen, Karen Grønskov

    出版 2019
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    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants 由 Sylvia Huisman, Paul A. Mulder, E. Redeker, Ingrid Bader, Anne‐Marie Bisgaard, Alice S. Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valérie Cormier‐Daire, Matthew A. Deardorff, Karin E. M. Diderich, Mariet Elting, Anthonie van Essen, David Fitzpatrick, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Katta M. Girisha, Yvonne Hilhorst‐Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J. Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D. Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna Moss, Sarah E. Noon, Chris Oliver, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C. M. Hennekam

    出版 2017
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