Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes von Kuznetsova, Ksenia G, Vašíček, Jakub, Skiadopoulou, Dafni, Molnes, Janne, Udler, Miriam, Johansson, Stefan, Njølstad, Pål Rasmus, Manning, Alisa, Vaudel, Marc

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Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population von Najmi, Laeya Abdoli, Aukrust, Ingvild, Flannick, Jason, Molnes, Janne, Burtt, Noel, Molven, Anders, Groop, Leif, Altshuler, David, Johansson, Stefan, Bjørkhaug, Lise, Njølstad, Pål Rasmus

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Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction von Holm, Pål I, Sbarra, Véronique, Njølstad, Pål Rasmus, Sagen, Jørn V, Ræder, Helge, Mas, Eric, Søvik, Oddmund, Nermoen, Ingrid, Molven, Anders, Johansson, Stefan, Aksnes, Lage, Bjørkhaug, Lise, Haldorsen, Ingfrid S, Eide, Stig Å, Lombardo, Dominique, Grevle, Louise

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The Composite Autonomic Symptom Score 31 Questionnaire: A Sensitive Test to Detect Risk for Autonomic Neuropathy von Meling, Sondre, Tjora, Erling, Eichele, Heike, Ejskjaer, Niels, Carlsen, Siri, Njølstad, Pål Rasmus, Brock, Christina, Søfteland, Eirik

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Structural properties of the HNF-1A transactivation domain von Kind, Laura, Driver, Mark, Raasakka, Arne, Onck, Patrick R., Njølstad, Pål Rasmus, Arnesen, Thomas, Kursula, Petri

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Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis von Fjeld, Karianne, Beer, Sebastian, Johnstone, Marianne, Zimmer, Constantin, Mössner, Joachim, Ruffert, Claudia, Krehan, Mario, Zapf, Christian, Njølstad, Pål Rasmus, Johansson, Stefan, Bugert, Peter, Miyajima, Fabio, Liloglou, Triantafillos, Brown, Laura J, Winn, Simon A, Davies, Kelly, Latawiec, Diane, Gunson, Bridget K, Criddle, David N, Pirmohamed, Munir, Grützmann, Robert, Michl, Patrick, Greenhalf, William, Molven, Anders, Sutton, Robert, Rosendahl, Jonas

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Subtype-Specific Surface Proteins on Adipose Tissue Macrophages and Their Association to Obesity-Induced Insulin Resistance von Strand, Kristina, Stiglund, Natalie, Haugstøyl, Martha Eimstad, Kamyab, Zahra, Langhelle, Victoria, Dyer, Laurence, Busch, Christian, Cornillet, Martin, Hjellestad, Iren Drange, Nielsen, Hans Jørgen, Njølstad, Pål Rasmus, Mellgren, Gunnar, Björkström, Niklas K, Fernø, Johan

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Clinical and genetic characteristics of congenital hyperinsulinism in Norway: A nationwide cohort study von Velde, Christoffer Drabløs, Molnes, Janne, Berland, Siren, Njølstad, Pål Rasmus, Molven, Anders

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1658-P: Rectal Hyposensitivity, a Potential Marker of Enteric Autonomic Nerve Dysfunction, Is Significantly Associated with Gastrointestinally Mediated Glucose Disposal in Persons... von MELING, SONDRE, TJORA, ERLING, EJSKJAER, NIELS, CARLSEN, SIRI, KNOP, FILIP K., RASMUS NJØLSTAD, PÅL, BROCK, CHRISTINA, NEDERGAARD, RASMUS B., SØFTELAND, EIRIK

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Pancreatic Function in Carboxyl-Ester Lipase Knockout Mice von Vesterhusa, Mette, Rædera, Helge, Kurpad, Amarnath J, Kawamori, Dan, Molven, Anders, Kulkarni, Rohit N, Ronald Kahn, C, Rasmus Njølstad, Pål

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Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants von Kind, Laura, Raasakka, Arne, Molnes, Janne, Aukrust, Ingvild, Bjørkhaug, Lise, Njølstad, Pål Rasmus, Kursula, Petri, Arnesen, Thomas

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Extending protein interaction networks using proteoforms and small molecules von Hernández Sánchez, Luis Francisco, Burger, Bram, Castro Campos, Rodrigo Alexander, Johansson, Stefan, Njølstad, Pål Rasmus, Barsnes, Harald, Vaudel, Marc

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DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins von Laborie, Lene Bjerke, Mackay, Deborah J. G., Temple, I. Karen, Molven, Anders, Søvik, Oddmund, Njølstad, Pål Rasmus

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Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young von Tijardović, Marko, Štambuk, Tamara, Juszczak, Agata, Keser, Toma, Gasperikova, Daniela, Novokmet, Mislav, Tjora, Erling, Pape Medvidović, Edita, Stanik, Juraj, Rasmus Njølstad, Pål, Lauc, Gordan, Owen, Katharine R., Gornik, Olga

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Roadmap for a precision-medicine initiative in the Nordic region von Njølstad, Pål Rasmus, Andreassen, Ole Andreas, Brunak, Søren, Børglum, Anders D., Dillner, Joakim, Esko, Tõnu, Franks, Paul W., Freimer, Nelson, Groop, Leif, Heimer, Hakon, Hougaard, David M., Hovig, Eivind, Hveem, Kristian, Jalanko, Anu, Kaprio, Jaakko, Knudsen, Gun Peggy, Melbye, Mads, Metspalu, Andres, Mortensen, Preben Bo, Palmgren, Juni, Palotie, Aarno, Reed, Wenche, Stefánsson, Hreinn, Stitziel, Nathan O., Sullivan, Patrick F., Thorsteinsdóttir, Unnur, Vaudel, Marc, Vuorio, Eero, Werge, Thomas, Stoltenberg, Camilla, Stefánsson, Kári

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Beta-Cell SCHAD Deficiency Causes Hypoglycemia in Mice von LUDEKE, JOHANNA, VELASCO, KELLY M., DE JESUS, DARIO F., SLIPP, BRITTANY A., HU, JIANG, STEINE, SOLRUN J., HELGELAND, GEIR, NJØLSTAD, PÅL RASMUS, KULKARNI, ROHIT, MOLVEN, ANDERS

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Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations von Tjora, Erling, Wathle, Gaute, Engjom, Trond, Erchinger, Friedemann, Molven, Anders, Aksnes, Lage, Haldorsen, Ingfrid Salvesen, Dimcevski, Georg, Njølstad, Pål Rasmus, Ræder, Helge

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Studies in 3,523 Norwegians and Meta-Analysis in 11,571 Subjects Indicate That Variants in the Hepatocyte Nuclear Factor 4α (HNF4A) P2 Region Are Associated With Type 2 Diabetes in... von JOHANSSON, Stefan, RAEDER, Helge, EIDE, Stig A, MIDTHJELL, Kristian, HVEEM, Kristian, SØVIK, Oddmund, MOLVEN, Anders, NJØLSTAD, Pal Rasmus

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Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis von Zhang, Ge, Bacelis, Jonas, Lengyel, Candice, Teramo, Kari, Hallman, Mikko, Helgeland, Øyvind, Johansson, Stefan, Myhre, Ronny, Sengpiel, Verena, Njølstad, Pål Rasmus, Jacobsson, Bo, Muglia, Louis

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Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth von Helgeland, Øyvind, Vaudel, Marc, Juliusson, Petur B., Lingaas Holmen, Oddgeir, Juodakis, Julius, Bacelis, Jonas, Jacobsson, Bo, Lindekleiv, Haakon, Hveem, Kristian, Lie, Rolv Terje, Knudsen, Gun Peggy, Stoltenberg, Camilla, Magnus, Per, Sagen, Jørn V., Molven, Anders, Johansson, Stefan, Njølstad, Pål Rasmus

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