يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Abrahamsen, Rannvá K."', وقت الاستعلام: 0.34s تنقيح النتائج
  1. 1
    Academic Journal
    Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands

    المؤلفون: Abrahamsen, Rannvá K., Lund, Allan M., Rasmussen, Jan

    المصدر: JIMD Reports ; volume 64, issue 6, page 453-459 ; ISSN 2192-8312 2192-8312

    الاتاحة: http://dx.doi.org/10.1002/jmd2.12383
    https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12383

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  2. 2
    Academic Journal
    Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

    المؤلفون: Kojic, Marija, Gawda, Tomasz, Gaik, Monika, Begg, Alexander, Salerno-Kochan, Anna, Kurniawan, Nyoman D., Jones, Alun, Drożdżyk, Katarzyna, Kościelniak, Anna, Chramiec-Głąbik, Andrzej, Hediyeh-Zadeh, Soroor, Kasherman, Maria, Shim, Woo Jun, Sinniah, Enakshi, Genovesi, Laura A., Abrahamsen, Rannvá K., Fenger, Christina D., Madsen, Camilla G., Cohen, Julie S., Fatemi, Ali, Stark, Zornitza, Lunke, Sebastian, Lee, Joy, Hansen, Jonas K., Boxill, Martin F., Keren, Boris, Marey, Isabelle, Saenz, Margarita S., Brown, Kathleen, Alexander, Suzanne A., Mureev, Sergey, Batzilla, Alina, Davis, Melissa J., Piper, Michael, Bodén, Mikael, Burne, Thomas H.J., Palpant, Nathan J., Møller, Rikke S., Glatt, Sebastian, Wainwright, Brandon J.

    المصدر: Nature Communications

    وصف الملف: application/pdf

    Relation: https://eprints.qut.edu.au/229872/1/108406423.pdf; Kojic, Marija, Gawda, Tomasz, Gaik, Monika, Begg, Alexander, Salerno-Kochan, Anna, Kurniawan, Nyoman D., Jones, Alun, Drożdżyk, Katarzyna, Kościelniak, Anna, Chramiec-Głąbik, Andrzej, Hediyeh-Zadeh, Soroor, Kasherman, Maria, Shim, Woo Jun, Sinniah, Enakshi, Genovesi, Laura A., Abrahamsen, Rannvá K., Fenger, Christina D., Madsen, Camilla G., Cohen, Julie S., Fatemi, Ali, Stark, Zornitza, Lunke, Sebastian, Lee, Joy, Hansen, Jonas K., Boxill, Martin F., Keren, Boris, Marey, Isabelle, Saenz, Margarita S., Brown, Kathleen, Alexander, Suzanne A., Mureev, Sergey, Batzilla, Alina, Davis, Melissa J., Piper, Michael, Bodén, Mikael, Burne, Thomas H.J., Palpant, Nathan J., Møller, Rikke S., Glatt, Sebastian, & Wainwright, Brandon J. (2021) Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. Nature Communications, 12, Article number: 2678.; http://purl.org/au-research/grants/nhmrc/1113531; https://eprints.qut.edu.au/229872/; Faculty of Science; School of Biology & Environmental Science

    الاتاحة: https://eprints.qut.edu.au/229872/

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