Torunn Fiskerstrand

Bergen, Norway

Last Updated: 09/26/2026

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Found 22 publications

Plasma levels of guanylins are reduced in patients with Crohn's disease.

Plasma levels of guanylins are reduced in patients with Crohn's disease.

Journal: Scandinavian journal of gastroenterology

Published: April 21, 2020

The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?

The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?

Journal: European journal of human genetics : EJHG

Published: October 16, 2019

Comparison of pre-analytical conditions for quantification of serotonin in platelet-poor plasma.

Comparison of pre-analytical conditions for quantification of serotonin in platelet-poor plasma.

Journal: Practical laboratory medicine

Published: June 24, 2019

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

Journal: American journal of human genetics

Published: November 05, 2018

Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea.

Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea.

Journal: Scandinavian journal of gastroenterology

Published: October 25, 2018

Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.

Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.

Journal: Epilepsia

Published: May 24, 2018

Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.

Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.

Journal: Journal of inherited metabolic disease

Published: September 28, 2017

Guanylate Cyclase C Activation Shapes the Intestinal Microbiota in Patients with Familial Diarrhea and Increased Susceptibility for Crohn's Disease.

Guanylate Cyclase C Activation Shapes the Intestinal Microbiota in Patients with Familial Diarrhea and Increased Susceptibility for Crohn's Disease.

Journal: Inflammatory bowel diseases

Published: September 14, 2017

Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation.

Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation.

Journal: PloS one

Published: July 01, 2017

The presence of anaemia negatively influences survival in patients with POLG disease.

The presence of anaemia negatively influences survival in patients with POLG disease.

Journal: Journal of inherited metabolic disease

Published: May 03, 2017

An activating gucy2c mutation causes impaired contractility and fluid stagnation in the small bowel.

An activating gucy2c mutation causes impaired contractility and fluid stagnation in the small bowel.

Journal: Scandinavian journal of gastroenterology

Published: June 25, 2016

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

Journal: American journal of human genetics

Published: June 22, 2016

Showing 1-12 of 22

Last Updated: 09/26/2026