Current Research Information SysTem In Norway
 
 

 English version


 
Hovedside
Forskningsresultater/NVI
Forskere
Prosjekter
Forskningsenheter
Logg inn
Om Cristin
 
 
   
Eksporter til


Viser treff 1-50 av 190 << Forrige 1 2 3 4    Neste >>

2019
1 Gudmundsson, Ólafur Ó.; Walters, Gudmundur Bragi; Ingason, Andrés; Johansson, Stefan; Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken; Gustafsson, Omar; Nawaz, Muhammad Sulaman; Jónsson, Gudbjörn F.; Jónsson, Lina; Knappskog, Per; Ingvarsdóttir, Ester; Davidsdóttir, Katrin; Djurovic, Srdjan; Knudsen, Gun Peggy Strømstad; Askeland, Ragna Bugge; Haraldsdóttir, Gyda S.; Baldursson, Gísli; Magnússon, Páll; Sigurdsson, Engilbert; Gudbjartsson, Daníel Fannar; Stéfansson, Hreinn; Andreassen, Ole Andreas; Haavik, Jan; Reichborn-Kjennerud, Ted; Stefánsson, Kári.
Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. Translational psychiatry 2019 ;Volum 9. s. 1-9
FHI HAUKELAND OUS UiB UiO Untitled
 
2 Tronstad, Rune Rose.
Clinical and molecular effects of guanylate cyclase C-activation. : Universitetet i Bergen 2019 (ISBN 9788230854426)
UiB HAUKELAND UiO Untitled
 
2018
3 Berger, Amund Holte.
Sensing foul AIRE: Investigating possible reporter genes for AIRE mutations. : Klinisk institutt 2, Universitetet i Bergen 2018
UiB Untitled
 
4 Eriksson, Daniel; Dalin, Frida; Eriksson, Gabriel Nordling; Landegren, Nils; Bianchi, Matteo; Hallgren, Åsa; Dahlqvist, Per; Wahlberg, Jeanette; Ekwall, Olov; Winqvist, Ola; Catrina, Sergiu-Bogdan; Rönnelid, Johan; Hulting, Anna-Lena; Lindblad-Toh, Kerstin; Alimohammadi, Mohammad; Husebye, Eystein Sverre; Knappskog, Per; Pielberg, Gerli Rosengren; Bensing, Sophie; Kämpe, Olle.
Cytokine autoantibody screening in the Swedish Addison Registry identifies patients with undiagnosed APS1. Journal of Clinical Endocrinology and Metabolism 2018 ;Volum 103.(1) s. 179-186
HAUKELAND UiB Untitled
 
5 Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon; Knappskog, Per; Dahl, Olav; Lund-Johansen, Morten; Alves, Guido; Tysnes, Ole-Bjørn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos.
No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. Brain 2018 ;Volum 141.(3) s. e16-e16
HAUKELAND SUS UiB UIS Untitled
 
6 Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon; Knappskog, Per; Dahl, Olav; Lund-Johansen, Morten; Maple-Grødem, Jodi; Alves, Guido; Tysnes, Ole-Bjørn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos.
Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. Movement Disorders 2018 ;Volum 33.(10) s. 1591-1600
HAUKELAND SUS UiB UIS Untitled
 
7 Håvik, Aril Løge; Bruland, Ove; Aarhus, Mads; Kalland, Karl-Henning; Stokowy, Tomasz; Lund-Johansen, Morten; Knappskog, Per.
Screening for viral nucleic acids in vestibular schwannoma. Journal of Neurovirology 2018 ;Volum 24.(6) s. 730-737
HAUKELAND OUS UiB Untitled
 
8 Szigetvari, Peter Daniel; Muruganandam, Gopinath; Kallio, Juha; Hallin, Erik Ingmar; Fossbakk, Agnete; Loris, Remy; Kursula, Inari; Møller, Lisbeth Birk; Knappskog, Per; Kursula, Petri; Haavik, Jan.
The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity. Journal of Neurochemistry 2018 ;Volum 148.(2) s. 291-306
HAUKELAND UiB Untitled
 
9 Tronstad, Rune Rose; Polushina, Tatiana; Brattbakk, Hans-Richard; Stansberg, Christine; Volkmann, Hilde Løland Von; Hanevik, Kurt; Ellinghaus, Eva; Jørgensen, Silje Fjellgård; Ersland, Kari Merete; Pham, Khanh Do-Cong; Gilja, Odd Helge; Hovdenak, Nils; Hausken, Trygve; Vatn, Morten H; Franke, Andre; Knappskog, Per; Le Hellard, Stephanie; Karlsen, Tom Hemming; Fiskerstrand, Torunn.
Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea. Scandinavian Journal of Gastroenterology 2018 ;Volum 53.(10-11) s. 1264-1273
AHUS HAUKELAND OUS UiB UiO Untitled
 
2017
10 Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence.
GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLOS ONE 2017 ;Volum 12:e0169309.(1) s. 1-10
HAUKELAND HELSEFØRDE UiB Untitled
 
11 Håvik, Aril Løge; Bruland, Ove; Myrseth, Erling; Miletic, Hrvoje; Aarhus, Mads; Knappskog, Per; Lund-Johansen, Morten.
Genetic landscape of sporadic vestibular schwannoma. Journal of Neurosurgery 2017 ;Volum 128.(3) s. 911-922
HAUKELAND OUS UiB Untitled
 
12 Macia, Maxence S.; Halbritter, Jan; Delous, Marion; Bredrup, Cecilie; Gutter, Arthur; Filhol, Emilie; Christensen, Anne Elisabeth; Leh, Sabine Maria; Bizet, Albane; Braun, Daniela A.; Gee, Heon Y.; Silbermann, Flora; Henry, Charline; Krug, Pauline; Bole-Feysot, Christine; Nitschké, Patrick; Joly, Dominique; Nicoud, Philippe; Paget, André; Haugland, Heidi; Brackman, Damien; Ahmet, Nayir; Sandford, Richard; Cengiz, Nurcan; Knappskog, Per; Boman, Helge; Linghu, Bolan; Yang, Fan; Oakeley, Edward J.; Saint Mézard, Pierre; Sailer, Andreas W.; Johansson, Stefan; Rødahl, Eyvind; Saunier, Sophie; Hildebrandt, Friedhelm; Benmerah, Alexandre.
Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. American Journal of Human Genetics 2017 ;Volum 100.(2) s. 323-333
HAUKELAND HELSEFØRDE UiB Untitled
 
13 Neveling, Kornelia; Mensenkamp, Arjen R.; Derks, Ronny; Kwint, Michael; Ouchene, Hicham; Steehouwer, Marloes; Lier, Bart Van; Bosgoed, Ermanno; Rikken, Alwin; Tychon, Marloes; Zafeiropoulou, Dimitra; Castelein, Steven; Hehir-Kwa, Jayne; Thung, Djie Tjwan; Hofste, Tom; Lelieveld, Stefan H.; Bertens, Stijn M.M.; Adan, Ivo B.J.F.; Eijkelenboom, Astrid; Tops, Bastiaan B.; Yntema, Helger; Stokowy, Tomasz; Knappskog, Per; Vetti, Hildegunn Høberg; Steen, Vidar Martin; Boyle, Evan; Martin, Beth; Ligtenberg, Marjolijn J.L.; Shendure, Jay; Nelen, Marcel R.; Hoischen, Alexander.
BRCA testing by single-molecule molecular inversion probes. Clinical Chemistry 2017 ;Volum 63.(2) s. 503-512
HAUKELAND UiB Untitled
 
14 Orlova, Elizaveta M.; Sozaeva, Leila S.; Kareva, Maria A.; Oftedal, Bergithe Eikeland; Wolff, Anette Susanne Bøe; Breivik, Lars Ertesvåg; Zakharova, Ekaterina Y.; Ivanova, Olga N.; Kämpe, Olle; Dedov, Ivan I.; Knappskog, Per; Peterkova, Valentina A.; Husebye, Eystein Sverre.
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.. Journal of Pediatric Endocrinology & Metabolism (JPEM) 2017 ;Volum 102.(9) s. 3546-3556
HAUKELAND UiB Untitled
 
15 Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J.; Bjørkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil Riddervold; Knappskog, Per; Johansson, Stefan; Aukrust, Ingvild.
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Bioscience Reports 2017 ;Volum 37.(2) s. 1-12
HAUKELAND HVL OUS UiB Untitled
 
16 Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan; Gjerde, Ivar Otto; Knappskog, Per; Bindoff, Laurence.
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum 2017 ;Volum 16.(1) s. 272-275
HAUKELAND UiB Untitled
 
2016
17 Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Bredrup, Cecilie; Rusaas, Hilde E.; Berland, Siren; Jørgensen, Agnete; Haug, Marte Gjøl; Rødahl, Eyvind; Houge, Gunnar; Knappskog, Per.
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Acta Ophthalmologica 2016 ;Volum 95.(3) s. 240-246
HAUKELAND STO UiB UNN Untitled
 
18 Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina; Teixeira, Pedro; Sztromwasser, Pawel Szymon; 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; Zeviani, Massimo; Bindoff, Laurence.
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Molecular Medicine 2016 ;Volum 8.(3) s. 176-190
HAUKELAND HELSEFØRDE UiB Untitled
 
19 Bruserud, Øyvind; Oftedal, Bergithe Eikeland; Landegren, Nils; Erichsen, Martina Moter; Bratland, Eirik; Lima, Kari; Jørgensen, Anders Palmstrøm; Myhre, Anne Grethe; Svartberg, Johan; Fougner, Kristian J; Bakke, Åsne; Nedrebø, Bjørn Gunnar; Mella, Bjarne; Breivik, Lars Ertesvåg; Viken, Marte K; Knappskog, Per; Cuida Marthinussen, Ileana Mihaela; Løvås, Kristian; Kämpe, Olle; Wolff, Anette Susanne Bøe; Husebye, Eystein Sverre.
A longitudinal follow-up of autoimmune polyendocrine syndrome type 1. Journal of Clinical Endocrinology and Metabolism 2016 ;Volum 101.(8) s. 2975-2983
AHUS HAUKELAND HELSEFONNA OSTFSYK OUS STO SUS UiB UiO UiT UNN Untitled
 
20 Flønes, Irene Hana; Sztromwasser, Pawel Szymon; Haugarvoll, Kristoffer; Dölle, Christian; Lykouri, Maria; Schwarzlmüller, Thomas; Jonassen, Inge; Miletic, Hrvoje; Johansson, Stefan; Knappskog, Per; Bindoff, Laurence; Tzoulis, Charalampos.
Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. PLOS ONE 2016 ;Volum 11.(2)
HAUKELAND UiB Untitled
 
21 Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence.
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. European Journal of Neurology 2016 ;Volum 23.(7) s. 1188-1194
HAUKELAND NTNU STO UiB Untitled
 
22 Lozić, Bernarda; Johansson, Stefan; Lovric Kojundzic, Sanja; Markić, Joško; Knappskog, Per; Hahn, Angelika F.; Boman, Helge.
Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. Annals of clinical and translational neurology 2016 ;Volum 3.(11) s. 876-883
HAUKELAND UiB Untitled
 
23 Vetti, Hildegunn Høberg; Bjorvatn, Cathrine; Fiane, Bent; Aas, Turid; Woie, Kathrine; Espelid, Helge; Eikesdal, Hans Petter; Listøl, Wenche; Haavind, Marianne Tveit; Knappskog, Per; Rusken, Tone; Haukanes, Bjørn Ivar; Steen, Vidar Martin; Hoogerbrugge, Nicoline.
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. European Journal of Human Genetics 2016 ;Volum 24.(6) s. 881-888
HAUKELAND HELSEFONNA HELSEFØRDE SUS UiB Untitled
 
2015
24 Aarnes, Siv; Hagen, Snorre; Andreassen, Rune; Schregel, Julia; Knappskog, Per; Hailer, Frank; Stenhouse, Gordon; Janke, Axel; Eiken, Hans Geir.
Y-chromosomal testing of brown bears (Ursus arctos): Validation of a multiplex PCR-approach for nine STRs suitable for fecal and hair samples. Forensic Science International: Genetics 2015 ;Volum 19. s. 197-204
OSLOMET NIBIO Untitled
 
25 Bredrup, Cecilie; Johansson, Stefan; Bindoff, Laurence; Sztromwasser, Pawel Szymon; Kråkenes, Jostein; Christensen, Anne Elisabeth; Brurås, Kari Røine; Lind, Ola; Boman, Helge; Knappskog, Per; Rødahl, Eyvind.
High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). American Journal of Ophthalmology 2015 ;Volum 159.(5) s. 973-979
HAUKELAND UiB Untitled
 
26 Christensen, Anne Elisabeth; Bruland, Ove; Vedeler, Anni; Saraste, Jaakko; Schönheit, Jürgen; Bredrup, Cecilie; Knappskog, Per; Rødahl, Eyvind.
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. Investigative Ophthalmology and Visual Science 2015 ;Volum 56.(5) s. 2909-2915
HAUKELAND UiB VETINST Untitled
 
27 Oftedal, Bergithe Eikeland; Hellesen, Alexander; Erichsen, Martina Moter; Bratland, Eirik; Vardi, Ayelet; Perheentupa, Jaakko; Kemp, E. Helen; Fiskerstrand, Torunn; Viken, Marte K; Weetman, Anthony P.; Fleishman, Sarel J.; Banka, Siddharth; Newman, William G.; Sewell, William A. Carrock; Sozaeva, Leila S.; Zayats, Tetyana; Haugarvoll, Kristoffer; Orlova, Elizaveta M.; Haavik, Jan; Johansson, Stefan; Knappskog, Per; Løvås, Kristian; Wolff, Anette Susanne Bøe; Abramson, Jakub; Husebye, Eystein Sverre.
Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity 2015 ;Volum 42.(6) s. 1185-1196
HAUKELAND OUS UiB UiO Untitled
 
28 Szigetvari, Peter Daniel.
Functional studies of tyrosine hydroxylase (TH) variants associated with DOPA responsive dystonia. : Institutt for biomedisin, Universitetet i Bergen 2015
UiB Untitled
 
29 Tzoulis, Charalompos; Zayats, Tetyana; Knappskog, Per; Mueller, Bernd; Larsen, Jan Petter; Tysnes, Ole-Bjørn; Bindoff, Laurence; Johansson, Stefan; Haugarvoll, Kristoffer.
HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proceedings of the National Academy of Sciences of the United States of America 2015 ;Volum 18:E2268.
HAUKELAND SUS UiB Untitled
 
30 Wedding, Iselin Marie; Kroken, Mette; Henriksen, Sandra Pilar; Selmer, Kaja Kristine; Fiskerstrand, Torunn; Knappskog, Per; Berge, Tone; Tallaksen, Chantal.
Friedreich ataxia in Norway - An epidemiological, molecular and clinical study. Orphanet Journal of Rare Diseases 2015 ;Volum 10.(1) s. 1-17
HAUKELAND OUS UiB UiO Untitled
 
31 Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken; Djurovic, Srdjan; Westlye, Lars Tjelta; Tamnes, Christian Krog; Fladby, Tormod; Aase, Heidi; Zeiner, Pål; Reichborn-Kjennerud, Ted; Knappskog, Per; Knudsen, Gun Peggy; Andreassen, Ole Andreas; Johansson, Stefan; Haavik, Jan.
Genome-wide analysis of attention deficit hyperactivity disorder in Norway. PLOS ONE 2015 ;Volum 10.(4) s. -
AHUS FHI HAUKELAND OUS UiB UiO Untitled
 
2014
32 Fossbakk, Agnete; Kleppe, Rune; Knappskog, Per; Martinez, Aurora; Haavik, Jan.
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in dopa-responsive dystonia. Human Mutation 2014 ;Volum 35.(7) s. 880-890
HAUKELAND UiB Untitled
 
33 Haarr, Lars; Nilsen, Arvid E; Knappskog, Per; Langeland, Nina.
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 clinic. BMC Infectious Diseases 2014 ;Volum 14.(1:63)
UiB Untitled
 
34 Haugarvoll, Kristoffer; Tzoulis, Charalampos; Tran, Gia Tuong Thi; Karlsen, Bjørn; Engelsen, Bernt; Knappskog, Per; Bindoff, Laurence.
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. Journal of Neurology 2014 ;Volum 261.(2) s. 358-362
HAUKELAND UiB Untitled
 
35 Heimdal, Ketil Riddervold; Sanchez Guixe, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg; ERICHSEN, ANNE KJERSTI; Gude, Einar; Koht, Jeanette; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal; Knappskog, Per; Johansson, Stefan.
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet Journal of Rare Diseases 2014 ;Volum 9:146.
HAUKELAND OUS UiB UiO VV Untitled
 
36 Melone, M; Pellegrino, M; Nolano, M; Habecker, B A; Johansson, Stefan; Nathanson, NM; Knappskog, Per; Hahn, AF; Boman, Helge.
Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.. Annals of clinical and translational neurology 2014 ;Volum 1.(11) s. 926-932
HAUKELAND UiB Untitled
 
37 Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A.; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Jürgen; Horn, Denise; Meynert, Alison; Floyd, James A.B.; Prescon, Trine; Anderson, Carl A.; Rainger, Jacqueline; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M.; Seawright, Anne; Soares, Dinesh; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Gibbs, Richard A.; van Heyningen, Veronica; Taylor, Martin S.; Yakut, Tahsin; Knappskog, Per; Hurles, Matthew E.; Ponting, Chris P.; Lupski, James R.; Houge, Gunnar; Fitzpatrick, David R..
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. American Journal of Human Genetics 2014 ;Volum 94.(6) s. 915-923
HAUKELAND OUS UiB Untitled
 
2013
38 Oftedal, Bergithe Eikeland; Erichsen, Martina Moter; Hellesen, Alexander; Perheentupa, Jaako; Fiskarstrand, Torunn; Knappskog, Per; Abramson, Jakub; Wolff, Anette Susanne Bøe; Husebye, Eystein Sverre.
Dominant Inheritance in Autoimmune Endocrine Syndrome Type 1. Scandinavian Journal of Immunology 2013 ;Volum 77.(4) s. 306-307
HAUKELAND UiB Untitled
 
39 Bratland, Eirik; Magitta, Ng'weina Francis; Wolff, Anette Susanne Bøe; Ekern, Trude; Knappskog, Per; Kämpe, Olle; Haavik, Jan; Husebye, Eystein Sverre.
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. Immunobiology 2013 ;Volum 218.(6) s. 899-909
HAUKELAND UiB Untitled
 
40 Brønstad, Ingeborg; Skinningsrud, Beate; Wolff, Anette Susanne Bøe; Bratland, Eirik; Løvås, Kristian; Knappskog, Per; Undlien, Dag Erik; Husebye, Eystein Sverre.
Characterisation of the CYP21A2 Gene in Patients with Autoimmune Addison's Disease. Scandinavian Journal of Immunology 2013 ;Volum 77.(4) s. 310-310
UiB UiO Untitled
 
41 Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche F; Boman, Helge; Knappskog, Per; Bindoff, Laurence.
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases 2013 ;Volum 8. s. -
HAUKELAND UiB Untitled
 
42 Mavroconstanti, Thegna; Johansson, Stefan; Winge, Ingeborg; Knappskog, Per; Haavik, Jan.
Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. PLOS ONE 2013 ;Volum 8.(8) s. -
HAUKELAND UiB Untitled
 
43 Rafaelsen, Silje Hjorth; Ræder, Helge; Fagerheim, Anne Kristine; Knappskog, Per; Carpenter, Thomas O.; Johansson, Stefan; Bjerknes, Robert.
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. Journal of Bone and Mineral Research 2013 ;Volum 28.(6) s. 1378-1385
HAUKELAND NLSH UiB Untitled
 
44 Rødahl, Eyvind; Knappskog, Per; Majewski, Jacek; Johansson, Stefan; Telstad, Wenche; Kråkenes, Jostein; Boman, Helge.
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. American Journal of Ophthalmology 2013 ;Volum 155.(5) s. 946-953
HAUKELAND HELSEFØRDE UiB Untitled
 
45 Tüysüz, Behayan; Kasapçopur, Özgür; Yalçınkaya, Cengiz; Haşıloğlu, Zehra Işık; Knappskog, Per; Boman, Helge.
Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene. Brain & development (Tokyo. 1979) 2013 ;Volum 35.(6) s. 596-601
HAUKELAND UiB Untitled
 
46 Tzoulis, Charalampos; Johansson, Stefan; Haukanes, Bjørn Ivar; Boman, Helge; Knappskog, Per; Bindoff, Laurence.
Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLOS ONE 2013 ;Volum 8.(6:e66145) s. -
HAUKELAND UiB Untitled
 
2012
47 Andreassen, Rune; Schregel, Julia; Kopatz, Alexander; Tobiassen, Camilla; Knappskog, Per; Hagen, Snorre; Kleven, Oddmund; Schneider, Michael; Kojola, Ilpo; Aspi, Jouni; Rykov, Alexander M.; Tirronen, Konstantin F.; Danilov, Pjotr I.; Eiken, Hans Geir.
A forensic DNA profiling system for Northern European brown bears (Ursus arctos). Forensic Science International: Genetics 2012 ;Volum 6.(6) s. 798-809
HAUKELAND OSLOMET NIBIO UiB Untitled
 
48 Aubi, Oscar; Knappskog, Per; Martinez, Aurora.
Early Stage Discovery and Validation of Pharmacological Chaperones for the Correction of Protein Misfolding Diseases. I: Methods in Molecular Biology. Humana Press 2012 s. 279-292
UiB Untitled
 
49 Fiskerstrand, Torunn; Arshad, Najla; Haukanes, Bjørn Ivar; Tronstad, Rune Rose; Pham, Khanh Cong Do; Johansson, Stefan; Håvik, Bjarte; Tønder, Siv Lisbeth; Levy, Shawn E.; Brackman, Damien; Boman, Helge; Biswas, Kabir Hassan; Apold, Jaran; Hovdenak, Nils; Visweswariah, Sandhya S.; Knappskog, Per.
Familial diarrhea syndrome caused by an activating GUCY2C mutation. New England Journal of Medicine 2012 ;Volum 366.(17) s. 1586-1595
HAUKELAND UiB Untitled
 
50 Johansson, Stefan; Irgens, Henrik Underthun; Chudasama, Kishankumar; Molnes, Janne; Aerts, Jan; Roque, Francisco; Jonassen, Inge; Levy, Shawn; Lima, Kari; Knappskog, Per; Bell, Graeme I.; Molven, Anders; Njølstad, Pål Rasmus.
Exome sequencing and genetic testing for MODY. PLOS ONE 2012 ;Volum 7.(5) s. -
AHUS HAUKELAND NORCE UiB Untitled
 
    Vis neste liste