Výsledky vyhledávání - Rendtorff, Nanna Dahl
- Zobrazuji výsledky 1 - 5 z 5
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Usher syndrome in Denmark: mutation spectrum and some clinical observations Autor 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
Vydáno 2016Text -
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Putative Digenic Inheritance of Heterozygous RP1L1 and C2orf71 Null Mutations in Syndromic Retinal Dystrophy Autor 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.
Vydáno 2016Text -
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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS Autor 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
Vydáno 2017Text -
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A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene Autor 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
Vydáno 2021Text