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2024
1 Kaci, Alba; Solheim, Marie Holm; Silgjerd, Trine; Hjaltadottir, Jorunn; Hornnes, Lorentze Hope; Molnes, Janne; Madsen, Andre Greger; Sjøholt, Gry; Bellanne-Chantelot, Christine; Caswell, Richard; Sagen, Jørn Vegard; Njølstad, Pål Rasmus; Aukrust, Ingvild; Bjørkhaug, Lise.
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. Human Molecular Genetics 2024 s. -
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2023
2 Svalastoga, Pernille; Kaci, Alba; Molnes, Janne; Solheim, Marie Holm; Johansson, Bente Berg; Krogvold, Lars; Skrivarhaug, Torild; Valen, Eivind; Johansson, Stefan; Molven, Anders; Sagen, Jørn Vegard; Søfteland, Eirik; Bjørkhaug, Lise; Tjora, Erling; Aukrust, Ingvild; Njølstad, Pål Rasmus.
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes. Diabetologia 2023 ;Volum 66. s. 2226-2237
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3 Tobias, Deirdre K.; Merino, Jordi; Ahmad, Abrar; Aiken, Catherine; Benham, Jamie L.; Bodhini, Dhanasekaran; Clark, Amy L.; Colclough, Kevin; Corcoy, Rosa; Cromer, Sara J.; Duan, Daisy; Felton, Jamie L.; Francis, Ellen C.; Gillard, Pieter; Gingras, Véronique; Gaillard, Romy; Haider, Eram; Hughes, Alice; Ikle, Jennifer M.; Jacobsen, Laura M.; Kahkoska, Anna R.; Kettunen, Jarno L. T.; Kreienkamp, Raymond J.; Lim, Lee-Ling; Männistö, Jonna M. E.; Massey, Robert; Mclennan, Niamh-Maire; Miller, Rachel G.; Morieri, Mario Luca; Most, Jasper; Naylor, Rochelle N.; Ozkan, Bige; Patel, Kashyap Amratlal; Pilla, Scott J.; Prystupa, Katsiaryna; Raghavan, Sridharan; Rooney, Mary R.; Schön, Martin; Semnani-Azad, Zhila; Sevilla-Gonzalez, Magdalena; Svalastoga, Pernille; Takele, Wubet Worku; Tam, Claudia Ha-ting; Thuesen, Anne Cathrine B.; Tosur, Mustafa; Wallace, Amelia S.; Wang, Caroline C.; Wong, Jessie J.; Yamamoto, Jennifer M.; Young, Katherine; Amouyal, Chloé; Andersen, Mette K.; Bonham, Maxine P.; Chen, Mingling; Cheng, Feifei; Chikowore, Tinashe; Chivers, Sian C.; Clemmensen, Christoffer; Dabelea, Dana; Dawed, Adem Y.; Deutsch, Aaron J.; Dickens, Laura T.; DiMeglio, Linda A.; Dudenhöffer-Pfeifer, Monika; Evans-Molina, Carmella; Fernández-Balsells, María Mercè; Fitipaldi, Hugo; Fitzpatrick, Stephanie L.; Gitelman, Stephen E.; Goodarzi, Mark O.; Grieger, Jessica A.; Guasch-Ferré, Marta; Habibi, Nahal; Hansen, Torben; Huang, Chuiguo; Harris-Kawano, Arianna; Ismail, Heba M.; Hoag, Benjamin; Johnson, Randi K.; Jones, Angus G.; Koivula, Robert W.; Leong, Aaron; Leung, Gloria K. W.; Libman, Ingrid M.; Liu, Kai; Long, S. Alice; Lowe, William L.; Morton, Robert W.; Motala, Ayesha A.; Onengut-Gumuscu, Suna; Pankow, James S.; Pathirana, Maleesa; Pazmino, Sofia; Perez, Dianna; Petrie, John R.; Powe, Camille E.; Quinteros, Alejandra; Jain, Rashmi; Ray, Debashree; Ried-Larsen, Mathias; Saeed, Zeb; Santhakumar, Vanessa; Kanbour, Sarah; Sarkar, Sudipa; Monaco, Gabriela S. F.; Scholtens, Denise M.; Selvin, Elizabeth; Sheu, Wayne Huey-Herng; Speake, Cate; Stanislawski, Maggie A.; Steenackers, Nele; Steck, Andrea K.; Stefan, Norbert; Støy, Julie; Taylor, Rachael; Tye, Sok Cin; Ukke, Gebresilasea Gendisha; Urazbayeva, Marzhan; Van der Schueren, Bart; Vatier, Camille; Wentworth, John M.; Hannah, Wesley; White, Sara L.; Yu, Gechang; Zhang, Yingchai; Zhou, Shao J.; Beltrand, Jacques; Polak, Michel; Aukrust, Ingvild; de Franco, Elisa; Flanagan, Sarah E.; Maloney, Kristin A.; McGovern, Andrew; Molnes, Janne; Nakabuye, Mariam; Njølstad, Pål Rasmus; Pomares-Millan, Hugo; Provenzano, Michele; Saint-Martin, Cécile; Zhang, Cuilin; Zhu, Yeyi; Auh, Sungyoung; de Souza, Russell; Fawcett, Andrea J.; Gruber, Chandra; Mekonnen, Eskedar Getie; Mixter, Emily; Sherifali, Diana; Eckel, Robert H.; Nolan, John J.; Philipson, Louis H.; Brown, Rebecca J.; Billings, Liana K.; Boyle, Kristen; Costacou, Tina; Dennis, John M.; Florez, Jose C.; Gloyn, Anna L.; Gomez, Maria F.; Gottlieb, Peter A.; Greeley, Siri Atma W.; Griffin, Kurt; Hattersley, Andrew T.; Hirsch, Irl B.; Hivert, Marie-France; Hood, Korey K.; Josefson, Jami L.; Kwak, Soo Heon; Laffel, Lori M.; Lim, Siew S.; Loos, Ruth J. F.; Ma, Ronald C. W.; Mathieu, Chantal; Mathioudakis, Nestoras; Meigs, James B.; Misra, Shivani; Mohan, Viswanathan; Murphy, Rinki; Oram, Richard; Owen, Katharine R.; Ozanne, Susan E.; Pearson, Ewan R.; Perng, Wei; Pollin, Toni I.; Pop-Busui, Rodica; Pratley, Richard E.; Redman, Leanne M.; Redondo, Maria J.; Reynolds, Rebecca M.; Semple, Robert K.; Sherr, Jennifer L.; Sims, Emily K.; Sweeting, Arianne; Tuomi, Tiinamaija; Udler, Miriam S.; Vesco, Kimberly K.; Vilsbøll, Tina; Wagner, Robert; Rich, Stephen S.; Franks, Paul W..
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. Nature Medicine 2023 s. -
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2022
4 Jellas, Khadija el; Dušátková, Petra; Haldorsen, Ingfrid S.; Molnes, Janne; Tjora, Erling; Johansson, Bente Berg; Fjeld, Karianne; Johansson, Stefan; Průhová, Štěpánka; Groop, Leif; Löhr, J. Matthias; Njølstad, Pål Rasmus; Molven, Anders.
Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases. Journal of Clinical Endocrinology and Metabolism (JCEM) 2022 ;Volum 107.(4) s. e1455-e1466
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5 Kind, Laura; Raasakka, Arne; Molnes, Janne; Aukrust, Ingvild; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Kursula, Petri; Arnesen, Thomas.
Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants. Journal of Biological Chemistry 2022 ;Volum 298.(4) s. -
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2021
6 Elias-Assad, Ghadir; Saab, Raunak; Molnes, Janne; Hess, Ora; Abu-Ras, Rasmi; Darawshi, Hussein; Njølstad, Pål Rasmus; Tenenbaum-Rakover, Yardena.
Maturity onset diabetes of the young type 2 (MODY2): Insight from an extended family. Diabetes Research and Clinical Practice 2021 ;Volum 175. s. -
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7 Romuld, Ingunn Bratland; Kalleklev, Tine-Lise; Molnes, Janne; Juliusson, Pétur Benedikt; Njølstad, Pål Rasmus; Sagen, Jørn Vegard.
Impact of overweight on glucose homeostasis in MODY2 and MODY3. Diabetic Medicine 2021 ;Volum 38.(10) s. -
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2020
8 Althari, Sara; Najmi, Laeya Abdoli; Bennett, Amanda J.; Aukrust, Ingvild; Rundle, Jana K.; Colclough, Kevin; Molnes, Janne; Kaci, Alba; Nawaz, Sameena; Hassanali, Neelam; Lugt, Timme van der; Mahajan, Anubha; Molven, Anders; Ellard, Sian; McCarthy, Mark I.; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Gloyn, Anna L..
Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation. American Journal of Human Genetics 2020 ;Volum 107.(4) s. 670-682
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2019
9 Kaci, Alba; Aukrust, Ingvild; Bjørkhaug, Lise; Svalastoga, Pernille; Molnes, Janne; Njølstad, Pål Rasmus.
Functional characterization of HNF1A variants identified in Norwegian MODY diabetes registry can implement precision medicine in diabetes clinics. European Human Genetics Conferance; 2019-06-15 - 2019-06-18
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10 Kaci, Alba; Aukrust, Ingvild; Njølstad, Pål Rasmus; Bjørkhaug, Lise; Svalastoga, Pernille; Molnes, Janne.
Functional characterization of diabetes gene variants is important for precision medicine. Norsk Diabetesforum konferanse; 2019-04-02 - 2019-04-04
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2018
11 Bjørkhaug, Lise; Aukrust, Ingvild; Kaci, Alba; Molnes, Janne; Torsvik, Janniche; Irgens, Henrik Underthun; Johansson, Bente Berg; Njølstad, Pål Rasmus.
Functional characterization of HNF1A variants identified in Norwegian diabetes registries can be important for precision medicine in diabetes clinics. EASD; 2018-10-01 - 2018-10-05
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2017
12 Johansson, Bente Berg; Irgens, Henrik Underthun; Molnes, Janne; Sztromwasser, Pawel Szymon; Aukrust, Ingvild; Juliusson, Petur Benedikt; Søvik, Oddmund; Levy, Shawn; Skrivarhaug, Torild; Joner, Geir; Molven, Anders; Johansson, Stefan; Njølstad, Pål Rasmus.
Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia 2017 ;Volum 60.(4) s. 625-635
HAUKELAND OUS UiO UiB Untitled
 
13 Najmi, Laeya Abdoli; Aukrust, Ingvild; Flannick, Jason; Molnes, Janne; Burtt, Noël; Molven, Anders; Groop, Leif; Altshuler, David; Johansson, Stefan; Bjørkhaug, Lise; Njølstad, Pål Rasmus.
Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. Diabetes 2017 ;Volum 66.(2) Suppl. 2 s. 335-346
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14 Sagen, Jørn V.; Bjørkhaug, Lise; Haukanes, Bjørn Ivar; Grevle, Louise; Molnes, Janne; Nedrebø, Bjørn Gunnar; Søvik, Oddmund; Njølstad, Pål Rasmus; Johansson, Stefan; Molven, Anders.
The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes. Diabetes Research and Clinical Practice 2017 ;Volum 133. s. 142-149
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2014
15 Negahdar, Maria; Aukrust, Ingvild; Molnes, Janne; Solheim, Marie Holm; Johansson, Bente Berg; Sagen, Jørn V.; Dahl-Jørgensen, Knut; Kulkarni, Rohit Rajesh; Søvik, Oddmund; Flatmark, Torgeir; Njølstad, Pål Rasmus; Bjørkhaug, Lise.
GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. Molecular and Cellular Endocrinology 2014 ;Volum 382.(1) s. 55-65
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2013
16 Flannick, Jason; Beer, Nicola L.; Bick, Alexander G.; Agarwala, Vineeta; Molnes, Janne; Gupta, Namrata; Burtt, Noël P.; Florez, Jose C.; Meigs, James B.; Taylor, Herman; Lyssenko, Valeriya; Irgens, Henrik Underthun; Fox, Erwin; Burslem, Frank; Johansson, Stefan; Brosnan, M. Julia; Trimmer, Jeff K.; Newton-Cheh, Christopher; Tuomi, Tiinamaija; Molven, Anders; Wilson, James G.; O'Donnell, Christopher J.; Kathiresan, Sekar; Hirschhorn, Joel N.; Njølstad, Pål Rasmus; Rolph, Tim; Seidman, Jonathan G.; Gabriel, Stacey; Cox, David R.; Seidman, Christine E.; Groop, Leif; Altshuler, David.
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics 2013 ;Volum 45.(11) s. 1380-1385
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17 Aukrust, Ingvild; Bjørkhaug, Lise; Negahdar, Maria; Molnes, Janne; Johansson, Bente Berg; Müller, Yvonne; Haas, Wilhelm; Gygi, Steven P.; Søvik, Oddmund; Flatmark, Torgeir; Kulkarni, Rohit N; Njølstad, Pål Rasmus.
SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. Journal of Biological Chemistry 2013 ;Volum 288.(8) s. 5951-5962
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18 Eifes, Serge; Chudasama, Kishan Kumar; Molnes, Janne; Wagner, Kerstin; Hoang, Tuyen; Schierloh, Ulrike; Rocour-Brumioul, Danielle; Johansson, Stefan; Njølstad, Pål Rasmus; de Beaufort, Carine.
A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports 2013 ;Volum 1.(2) s. 86-90
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19 Elbarbary, Nancy S.; Tjora, Erling; Molnes, Janne; Lie, Benedicte Alexandra; Habib, Mohammad A.; Salem, Mona A.; Njølstad, Pål Rasmus.
An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. Pediatric Diabetes 2013 ;Volum 14.(6) s. 466-472
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20 Irgens, Henrik Underthun; Molnes, Janne; Johansson, Bente Berg; Ringdal, Monika; Skrivarhaug, Torild; Undlien, Dag Erik; Søvik, Oddmund; Joner, Geir; Molven, Anders; Njølstad, Pål Rasmus.
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. Diabetologia 2013 ;Volum 56.(7) s. 1512-1519
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21 Jahnavi, S; Poovazhagi, V; Mohan, V; Bodhini, D; Raghupathy, P; Amutha, A; Suresh Kumar, P; Adhikari, P; Shriraam, M; Kaur, T; Das, AK; Molnes, Janne; Njølstad, Pål Rasmus; Unnikrishnan, R; Radha, V.
Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children. Clinical Genetics 2013 ;Volum 83.(5) s. 439-445
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22 Søvik, Oddmund; Irgens, Henrik Underthun; Molnes, Janne; Sagen, Jørn V.; Bjørkhaug, Lise; Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus.
Monogenetic diabetes mellitus in Norway :. Norsk Epidemiologi 2013 ;Volum 23.(1) s. 55-60
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2012
23 Gonc, E. Nazli; Ozturk, Burcu Bulum; Haldorsen, Ingfrid S.; Molnes, Janne; Immervoll, Heike; Ræder, Helge; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus.
HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. Pediatric Diabetes 2012 ;Volum 13.(2) s. e1-e5
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24 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. -
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25 Molnes, Janne.
Human pancreatic glucokinase; Structural and physico-chemical studies related to catalytic activation, kinetic cooperativity and GCK-diabetes. : University of Bergen 2012 (ISBN 978-82-308-2109-1)
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26 Negahdar, Maria; Aukrust, Ingvild; Johansson, Bente Berg; Molnes, Janne; Molven, Anders; Matschinsky, Franz M.; Søvik, Oddmund; Kulkarni, Rohit N; Flatmark, Torgeir; Njølstad, Pål Rasmus; Bjørkhaug, Lise.
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. Biochimica et Biophysica Acta - Molecular Basis of Disease 2012 ;Volum 1822.(11) s. 1705-1715
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2011
27 Molnes, Janne; Teigen, Knut; Aukrust, Ingvild; Bjørkhaug, Lise; Søvik, Oddmund; Flatmark, Torgeir; Njølstad, Pål Rasmus.
Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity. The FEBS Journal 2011 ;Volum 278.(13) s. 2372-2386
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2008
28 Molnes, Janne; Bjørkhaug, Lise; Søvik, Oddmund; Njølstad, Pål Rasmus; Flatmark, Torgeir.
Catalytic activation of human glucokinase by substrate binding - residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions. The FEBS Journal 2008 ;Volum 275.(10) s. 2467-2481
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29 Sagen, Jørn V.; Bjørkhaug, Lise; Molnes, Janne; Ræder, Helge; Grevle, Louise; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus.
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. Pediatric Diabetes 2008 ;Volum 9. s. 442-449
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2007
30 Bjørkhaug, Lise; Molnes, Janne; Søvik, Oddmund; Njølstad, Pål Rasmus; Flatmark, Torgeir.
Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation. Journal of Biological Chemistry 2007 ;Volum 282.(31) s. 22757-22764
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2005
31 Tammaro, P; Girard, C; Molnes, Janne; Njølstad, Pål Rasmus; Ashcroft, F.
Two novel Kir6.2 mutations affecting the ATP sensitivity of the K-ATP channel are the cause of Permanent Neonatal Diabetes. Biophysical Journal 2005 ;Volum 88.(1,Suppl S) s. 285A-285A
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32 Tammaro, Paolo; Girard, Christophe; Molnes, Janne; Njølstad, Pål Rasmus; Ashcroft, Frances M..
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO Journal 2005 ;Volum 24.(13) s. 2318-2330
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2004
33 Gloyn, AL; Pearson, ER; Antcliff, JF; Proks, P; Bruining, GJ; Slingerland, AS; Howard, N; Srinivasan, S; Silva, JMCL; Molnes, Janne; Edghill, EL; Frayling, TM; Temple, IK; Mackay, D; Shield, JPH; Sumnik, Z; van Rhijn, A; Wales, JKH; Clark, P; Gorman, S; Aisenberg, J; Ellard, S; Njølstad, Pål Rasmus; Ashcroft, FM; Hattersley, AT.
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. New England Journal of Medicine 2004 ;Volum 350. s. 1838-1849
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34 Sagen, Jørn V.; Ræder, Helge; Hathout, Eba; Gudmundsson, K; Bævre, H; Abuelo, D; Phornphutkul, C; Molnes, Janne; Bell, GI; Gloyn, AL; Hattersley, AT; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus.
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2 - Patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004 ;Volum 53. s. 2713-2718
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2003
35 Njølstad, Pål Rasmus; Sagen, Jørn; Bjørkhaug, Lise; Odili, Stella; Shehadeh, Naim; Bakry, Doua; Sarici, S. Umit; Alpay, Faruk; Molnes, Janne; Molven, Anders; Søvik, Oddmund; Matschinsky, Franz M..
Permanent neonatal diabetes mellitus due to glucokinase deficiency- an inborn error of the glucose-insulin signalling pathway. Diabetes 2003 ;Volum 52.(11) s. 2854-2860
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36 Njølstad, Pål Rasmus; Sagen, Jørn V.; Bjørkhaug, Lise; Odili, Stella; Shehadeh, Naim; Bakry, Doua; Sarici, U; Alpay, Faruk; Molnes, Janne; Molven, Anders; Søvik, Oddmund; Matschinsky, Franz M..
Permanent neonatal diabetes caused by glucokinase deficiency; inborn error of the glucose-insulin signaling pathway. Diabetes 2003 ;Volum 52. s. 2854-2860
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2002
37 Njølstad, Pål Rasmus; Dahl-Jørgensen, Knut; Sarici, U; Bjørkhaug, L; Molnes, Janne; Molven, Anders; Søvik, Oddmund; Matschinsky, FM.
Mild diabetes or permanent neonatal diabetes: Localization of glukoinase mutations linked to severity of phenotype. MANGLER; 2002-01-01
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38 Njølstad, Pål Rasmus; Dahl-Jørgensen, Knut; Sarici, U; Bjørkhaug, L; Odili, S; Molnes, Janne; Molven, Anders; Søvik, Oddmund; Matschinsky, FM.
Mild diabetes or permanent neonatal diabetes: Localization of glucoinase mutations linked to severity of phenotype. Fernstrøm Foundation Symposium.; 2002-08-28 - 2005-08-31
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1998
39 Molnes, Janne.
Antigenic drift in the HA1 domain of influenza A(H3N2) strains isolated in Norway in 1992-6 and relationship to vaccine and reference viruses. : [Mangler utgivernavn] 1998 Cand.scient. thesis.
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1997
40 Haaheim, Lars Reinhardt; Cox, RJ; Molnes, Janne; Nakkestad, Hanne Linda; Ibsen, M. W..
Plasmacute - A diagnostic tool for influenza?. 30th Anniversary Meeting at Research Institute of Influenza; 1997
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41 Molnes, Janne.
Antigenic drift in the HA<SUB>1</SUB> domain of influenza A(H3N2) strains isolated in Norway in 1992-6 and relationship to vaccine and reference viruses. : [Mangler utgivernavn] 1997 95 s.
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