Hasil Pencarian - Cecilie F Rustad

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  1. 1
    Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

    Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study oleh Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan, Grethe Månum

    Diterbitkan 2020-12-01
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  2. 2
    High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

    High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study oleh Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan, Grethe Månum

    Diterbitkan 2020-05-01
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  3. 3
    A monoallelic UXS1 variant associated with short‐limbed short stature

    A monoallelic UXS1 variant associated with short‐limbed short stature oleh Cecilie F. Rustad, Paul Hoff Backe, Chunsheng Jin, Else Merckoll, Kristian Tveten, Marissa Lucy Maciej‐Hulme, Niclas Karlsson, Trine Prescott, Elise Sandås Sand, Berit Woldseth, Katja Benedikte Prestø Elgstøen, Øystein L. Holla

    Diterbitkan 2024-06-01
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  4. 4
    Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

    Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13 oleh Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta M. Girisha, Giedre Grigelioniene

    Diterbitkan 2023-11-01
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  5. 5
    Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

    Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up oleh Panagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara-Kautto, Asbjørg Stray-Pedersen, Lone Smidstrup Friis, Ingunn Dybedal, Randi Hovland, Kirsi Jahnukainen, Klas Raaschou-Jensen, Per Ljungman, Cecilie F. Rustad, Charlotte K. Lautrup, Outi Kilpivaara, Astrid Olsnes Kittang, Kirsten Grønbæk, Jörg Cammenga, Eva Hellström-Lindberg, Mette K. Andersen

    Diterbitkan 2019-12-01
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  6. 6
    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

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

    Diterbitkan 2016-01-01
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