Stability of glycoprotein gene sequences of herpes simplex virus type 2 from primary to recurrent human infection, and diversity of the sequences among patients attending an STD cl...

by Haarr, Lars, Nilsen, Arvid, Knappskog, Per M, Langeland, Nina
Published 2014

Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease

by Brønstad, Ingeborg, Wolff, Anette SB, Løvås, Kristian, Knappskog, Per M, Husebye, Eystein S
Published 2011

Functional Properties of Rare Missense Variants of Human CDH13 Found in Adult Attention Deficit/Hyperactivity Disorder (ADHD) Patients

by Mavroconstanti, Thegna, Johansson, Stefan, Winge, Ingeborg, Knappskog, Per M., Haavik, Jan
Published 2013

Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts

by Helland Christian A, Aarhus Mads, Lund-Johansen Morten, Wester Knut, Knappskog Per M
Published 2010-02-01

Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia

by Fossbakk, Agnete, Kleppe, Rune, Knappskog, Per M, Martinez, Aurora, Haavik, Jan
Published 2014

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

by Flønes, Irene, Sztromwasser, Paweł, Haugarvoll, Kristoffer, Dölle, Christian, Lykouri, Maria, Schwarzlmüller, Thomas, Jonassen, Inge, Miletic, Hrvoje, Johansson, Stefan, Knappskog, Per M., Bindoff, Laurence A., Tzoulis, Charalampos
Published 2016

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

by Melone, Mariarosa A B, Pellegrino, Michael J, Nolano, Maria, Habecker, Beth A, Johansson, Stefan, Nathanson, Neil M, Knappskog, Per M, Hahn, Angelika F, Boman, Helge
Published 2014

Exome Sequencing and Genetic Testing for MODY

by Johansson, Stefan, Irgens, Henrik, Chudasama, Kishan K., Molnes, Janne, Aerts, Jan, Roque, Francisco S., Jonassen, Inge, Levy, Shawn, Lima, Kari, Knappskog, Per M., Bell, Graeme I., Molven, Anders, Njølstad, Pål R.
Published 2012

BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study

by Høberg-Vetti, Hildegunn, Bjorvatn, Cathrine, Fiane, Bent E, Aas, Turid, Woie, Kathrine, Espelid, Helge, Rusken, Tone, Eikesdal, Hans Petter, Listøl, Wenche, Haavind, Marianne T, Knappskog, Per M, Haukanes, Bjørn Ivar, Steen, Vidar M, Hoogerbrugge, Nicoline
Published 2016

Genome-Wide Analysis of Attention Deficit Hyperactivity Disorder in Norway

by Zayats, Tetyana, Athanasiu, Lavinia, Sonderby, Ida, Djurovic, Srdjan, Westlye, Lars T., Tamnes, Christian K., Fladby, Tormod, Aase, Heidi, Zeiner, Pål, Reichborn-Kjennerud, Ted, Knappskog, Per M., Knudsen, Gun Peggy, Andreassen, Ole A., Johansson, Stefan, Haavik, Jan
Published 2015

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

by Bruserud, Øyvind, Oftedal, Bergithe E., Landegren, Nils, Erichsen, Martina M., Bratland, Eirik, Lima, Kari, Jørgensen, Anders P., Myhre, Anne G., Svartberg, Johan, Fougner, Kristian J., Bakke, Åsne, Nedrebø, Bjørn G., Mella, Bjarne, Breivik, Lars, Viken, Marte K., Knappskog, Per M., Marthinussen, Mihaela C., Løvås, Kristian, Kämpe, Olle, Wolff, Anette B., Husebye, Eystein S.
Published 2016

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

by Brunetti, Dario, Torsvik, Janniche, Dallabona, Cristina, Teixeira, Pedro, Sztromwasser, Pawel, Fernandez‐Vizarra, Erika, Cerutti, Raffaele, Reyes, Aurelio, Preziuso, Carmela, D'Amati, Giulia, Baruffini, Enrico, Goffrini, Paola, Viscomi, Carlo, Ferrero, Ileana, Boman, Helge, Telstad, Wenche, Johansson, Stefan, Glaser, Elzbieta, Knappskog, Per M, Zeviani, Massimo, Bindoff, Laurence A
Published 2015

STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

by Heimdal, Ketil, Sanchez-Guixé, Monica, Aukrust, Ingvild, Bollerslev, Jens, Bruland, Ove, Jablonski, Greg Eigner, Erichsen, Anne Kjersti, Gude, Einar, Koht, Jeanette A, Erdal, Sigrid, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Boman, Helge, Bjørkhaug, Lise, Tallaksen, Chantal ME, Knappskog, Per M, Johansson, Stefan
Published 2014