検索結果 - Else Merckoll

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  1. 1
    Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study

    Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study 著者: Helena Andersson, Eva Kirkhus, Torhild Garen, Ragnhild Walle-Hansen, Else Merckoll, Øyvind Molberg

    出版事項 2017
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  2. 2
    A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

    A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform 著者: Tuva Barøy, Janet Koster, Petter Strømme, Merel S. Ebberink, Doriana Misceo, Sacha Ferdinandusse, Asbjørn Holmgren, Timothy Hughes, Else Merckoll, Jostein Westvik, Berit Woldseth, John H. Walter, Nicholas Wood, Bjørn Tvedt, Kristine Stadskleiv, Ronald J. A. Wanders, Hans R. Waterham, Eirik Frengen

    出版事項 2015
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  3. 3
    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations 著者: Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed Al Balwi, Ok-Hwa Kim, Tae‐Joon Cho, Gye‐Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniené, Ikuyo Kou, Masahiro Nakajima, H Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa

    出版事項 2016
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  4. 4
    PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

    PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia 著者: Asbjørg Stray‐Pedersen, Paul Hoff Backe, Hanne Sørmo Sorte, Lars Mørkrid, Niti Chokshi, Hans Christian Erichsen, Tomasz Gambin, Katja Benedikte Prestø Elgstøen, Magnar Bjørås, Marcin W. Włodarski, Marcus Krüger, Shalini N. Jhangiani, Donna M. Muzny, Ankita Patel, Kimiyo Raymond, Ghadir Sasa, Robert A. Krance, Caridad Martinez, Shirley Abraham, Carsten Speckmann, Stephan Ehl, Patricia Hall, Lisa R. Forbes, Else Merckoll, Jostein Westvik, Gen Nishimura, Cecilie F. Rustad, Tore G. Abrahamsen, Arild Rønnestad, Liv Osnes, Torstein Egeland, Olaug K. Rødningen, Christine R. Beck, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Ekkehart Lausch, I. Celine Hanson

    出版事項 2014
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