Pål Rasmus Njølstad

Professor
ved Klinisk institutt 2 ved Universitetet i Bergen
Overlege / forsker
ved Barneklinikken ved Helse Bergen HF - Haukeland universitetssykehus

Resultater Resultater

Molecular mechanism of HNF-1A–mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.

Kind, Laura; Molnes, Janne; Tjora, Erling; Raasakka, Arne; Myllykoski, Matti Aukusti; Colclough, Kevin; Saint-Martin, Cécile; Adelfalk, Caroline; Dusatkova, Petra; Pruhova, Stepanka mfl.. 2024, JCI Insight. SUS, FNMOTOL, HAUKELAND, STORBRITAN, OULU, PITIE, UIBVitenskapelig artikkel

In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY.

Pavithram, Aishwarya; Zhang, Haichen; Maloney, Kristin A.; Ringdal, Monika; Kaci, Alba; Sagen, Jørn Vegard; Kleinberger, Jeffrey; Jeng, Linda J.B.; Njølstad, Pål Rasmus; Pollin, Toni I. mfl.. 2024, Journal of Molecular Diagnostics. UNIVPITT, FDA, UoMB, HAUKELAND, UIBVitenskapelig artikkel

Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes.

Kuznetsova, Ksenia G.; Vašíček, Jakub; Skiadopoulou, Dafni; Molnes, Janne; Udler, Miriam; Johansson, Stefan; Njølstad, Pål Rasmus; Manning, Alisa; Vaudelid, Marc. 2024, PLOS ONE. FHI, HAUKELAND, BROAD, UIB, MGH, HMSVitenskapelig artikkel

A genome-wide association study provides insights into the genetic etiology of 57 essential and non-essential trace elements in humans.

Moksnes, Marta R.; Hansen, Ailin F.; Wolford, Brooke N.; Thomas, Laurent F.; Rasheed, Humaira; Simic, Anica; Bhatta, Laxmi; Brantsæter, Anne Lise; Surakka, Ida; Zhou, Wei mfl.. 2024, Communications Biology. FHI, NTNU, UOMA, HAUKELAND, UoB, BROAD, OUS, UIB, MGH, KINA, STOLAV, UIO, UQ, SJTUVitenskapelig artikkel

Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study.

Jaitner, Annika; Vaudel, Marc; Tsaneva-Atanasova, Krasimira; Njølstad, Pål Rasmus; Jacobsson, Bo; Bowden, Jack; Johansson, Stefan; Freathy, Rachel M.. 2024, BMC Pregnancy and Childbirth. SAHLGREN, FHI, STORBRITAN, HAUKELAND, UoE, SA, UIBVitenskapelig artikkel

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