检索结果 - Rendtorff, Nanna Dahl

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

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Usher syndrome in Denmark: mutation spectrum and some clinical observations 由 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

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Putative Digenic Inheritance of Heterozygous RP1L1 and C2orf71 Null Mutations in Syndromic Retinal Dystrophy 由 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.

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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS 由 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

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A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene 由 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

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