Hasil Pencarian - Per M. Knappskog

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  1. 1
    Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients.

    Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. oleh Thegna Mavroconstanti, Stefan Johansson, Ingeborg Winge, Per M Knappskog, Jan Haavik

    Diterbitkan 2013-01-01
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  2. 2
    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
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  3. 3
    Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

    Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. oleh Irene Flønes, Paweł Sztromwasser, Kristoffer Haugarvoll, Christian Dölle, Maria Lykouri, Thomas Schwarzlmüller, Inge Jonassen, Hrvoje Miletic, Stefan Johansson, Per M Knappskog, Laurence A Bindoff, Charalampos Tzoulis

    Diterbitkan 2016-01-01
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  4. 4
    Exome sequencing and genetic testing for MODY.

    Exome sequencing and genetic testing for MODY. oleh Stefan Johansson, Henrik Irgens, Kishan K Chudasama, Janne Molnes, Jan Aerts, Francisco S Roque, Inge Jonassen, Shawn Levy, Kari Lima, Per M Knappskog, Graeme I Bell, Anders Molven, Pål R Njølstad

    Diterbitkan 2012-01-01
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  5. 5
    Genome-wide analysis of attention deficit hyperactivity disorder in Norway.

    Genome-wide analysis of attention deficit hyperactivity disorder in Norway. oleh Tetyana Zayats, Lavinia Athanasiu, Ida Sonderby, Srdjan Djurovic, Lars T Westlye, Christian K Tamnes, Tormod Fladby, Heidi Aase, Pål Zeiner, Ted Reichborn-Kjennerud, Per M Knappskog, Gun Peggy Knudsen, Ole A Andreassen, Stefan Johansson, Jan Haavik

    Diterbitkan 2015-01-01
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  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
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  7. 7
    A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1

    A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1 oleh Bergithe Eikeland Oftedal, Amund Holte Berger, Øyvind Bruserud, Yael Goldfarb, Andre Sulen, Lars Breivik, Alexander Hellesen, Shifra Ben-Dor, Rebecca Haffner-Krausz, Per M. Knappskog, Stefan Johansson, Anette S.B. Wolff, Eirik Bratland, Jakub Abramson, Eystein Sverre Husebye

    Diterbitkan 2023-11-01
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  8. 8
    Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

    Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration oleh Dario Brunetti, Janniche Torsvik, Cristina Dallabona, Pedro Teixeira, Pawel Sztromwasser, Erika Fernandez‐Vizarra, Raffaele Cerutti, Aurelio Reyes, Carmela Preziuso, Giulia D'Amati, Enrico Baruffini, Paola Goffrini, Carlo Viscomi, Ileana Ferrero, Helge Boman, Wenche Telstad, Stefan Johansson, Elzbieta Glaser, Per M Knappskog, Massimo Zeviani, Laurence A Bindoff

    Diterbitkan 2015-12-01
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