Hasil Pencarian - Ingvild Aukrust

  • Menampilkan 1 - 7 hasil dari 7
Perbaiki Hasil
  1. 1
    Diabetes mellitus – analysis of gene variants associated with subtypes of Maturity-Onset Diabetes of the Young (MODY)

    Diabetes mellitus – analysis of gene variants associated with subtypes of Maturity-Onset Diabetes of the Young (MODY) oleh Lise Bjørkhaug Gundersen, Ingvild Aukrust

    Diterbitkan 2022-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant – a case report

    NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant – a case report oleh Nina McTiernan, Svein Isungset Støve, Ingvild Aukrust, Marita Torrisen Mårli, Line M. Myklebust, Gunnar Houge, Thomas Arnesen

    Diterbitkan 2018-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish

    Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish oleh Yasaman Pakdaman, Yasaman Pakdaman, Yasaman Pakdaman, Elsa Denker, Eirik Austad, William H. J. Norton, Hans O. Rolfsnes, Laurence A. Bindoff, Laurence A. Bindoff, Charalampos Tzoulis, Charalampos Tzoulis, Ingvild Aukrust, Ingvild Aukrust, Per M. Knappskog, Per M. Knappskog, Stefan Johansson, Stefan Johansson, Ståle Ellingsen

    Diterbitkan 2021-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing <i>GNAO1</i> Mutation P170R

    Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing <i>GNAO1</i> Mutation P170R oleh Yonika A. Larasati, Gonzalo P. Solis, Alexey Koval, Silja T. Griffiths, Ragnhild Berentsen, Ingvild Aukrust, Gaetan Lesca, Nicolas Chatron, Dorothée Ville, Christian M. Korff, Vladimir L. Katanaev

    Diterbitkan 2023-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays

    Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays oleh Nicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, Elisabeth Jarhelle, Nikara Pedersen, Eunice Kabanyana Mchaina, Sara Marie Engelsvold Bakkan, Nina Iversen, Hildegunn Høberg-Vetti, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal, Marijke Van Ghelue

    Diterbitkan 2023-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Genetic Dominant Variants in <i>STUB1,</i> Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

    Genetic Dominant Variants in <i>STUB1,</i> Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16 oleh Yasaman Pakdaman, Siren Berland, Helene J. Bustad, Sigrid Erdal, Bryony A. Thompson, Paul A. James, Kjersti N. Power, Ståle Ellingsen, Martin Krooni, Line I. Berge, Adrienne Sexton, Laurence A. Bindoff, Per M. Knappskog, Stefan Johansson, Ingvild Aukrust

    Diterbitkan 2021-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion

    The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion oleh Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Ikle, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint-Martin, Janne Molnes, ADA/EASD PMDI, Shivani Misra, Ingvild Aukrust, Elisa de Franco, Sarah E. Flanagan, Pål R. Njølstad, Liana K. Billings, Katharine R. Owen, Anna L. Gloyn

    Diterbitkan 2023-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: