Search Results - Rendtorff, Nanna Dahl

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  1. 1
    Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting

    Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting by Chen, Neng, Tranebjærg, Lisbeth, Rendtorff, Nanna Dahl, Schrijver, Iris

    Published 2011
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  2. 2
    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Usher syndrome in Denmark: mutation spectrum and some clinical observations by Dad, Shzeena, Rendtorff, Nanna Dahl, Tranebjærg, Lisbeth, Grønskov, Karen, Karstensen, Helena Gásdal, Brox, Vigdis, Nilssen, Øivind, Roux, Anne‐Françoise, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth Birk

    Published 2016
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  3. 3
    Putative Digenic Inheritance of Heterozygous RP1L1 and C2orf71 Null Mutations in Syndromic Retinal Dystrophy

    Putative Digenic Inheritance of Heterozygous RP1L1 and C2orf71 Null Mutations in Syndromic Retinal Dystrophy by Liu, Yangfan P., Bosch, Daniëlle G.M., Siemiatkowska, Anna M., Rendtorff, Nanna Dahl, Boonstra, F. Nienke, Möller, Claes, Tranebjærg, Lisbeth, Katsanis, Nicholas, Cremers, Frans P.M.

    Published 2016
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  4. 4
    An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

    An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS by Tracewska-Siemiątkowska, Anna, Haer-Wigman, Lonneke, Bosch, Danielle G. M., Nickerson, Deborah, Bamshad, Michael J., van de Vorst, Maartje, Rendtorff, Nanna Dahl, Möller, Claes, Kjellström, Ulrika, Andréasson, Sten, Cremers, Frans P. M., Tranebjærg, Lisbeth

    Published 2017
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  5. 5
    A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

    A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene by Abdelfatah, Nelly, Mostafa, Ahmed A., French, Curtis R., Doucette, Lance P., Penney, Cindy, Lucas, Matthew B., Griffin, Anne, Booth, Valerie, Rowley, Christopher, Besaw, Jessica E., Tranebjærg, Lisbeth, Rendtorff, Nanna Dahl, Hodgkinson, Kathy A., Little, Leichelle A., Agrawal, Sumit, Parnes, Lorne, Batten, Tony, Moore, Susan, Hu, Pingzhao, Pater, Justin A., Houston, Jim, Galutira, Dante, Benteau, Tammy, MacDonald, Courtney, French, Danielle, O’Rielly, Darren D., Stanton, Susan G., Young, Terry-Lynn

    Published 2021
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