Cecilie F. Rustad

Skien, Norway

Last Updated: 09/26/2026

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Found 36 publications

Health-Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet-Biedl Syndrome.

Health-Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet-Biedl Syndrome.

Journal: American journal of medical genetics. Part A

Published: February 23, 2026

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Journal: European journal of human genetics : EJHG

Published: September 05, 2025

Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.

Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.

Journal: Clinical dysmorphology

Published: May 30, 2025

Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome.

Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome.

Journal: The British journal of dermatology

Published: May 23, 2025

Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.

Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.

Journal: BMJ open

Published: April 22, 2025

'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

Journal: Journal of medical genetics

Published: December 25, 2024

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Journal: Orphanet journal of rare diseases

Published: April 12, 2024

A monoallelic UXS1 variant associated with short-limbed short stature.

A monoallelic UXS1 variant associated with short-limbed short stature.

Journal: Molecular genetics & genomic medicine

Published: January 19, 2024

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

Journal: NPJ genomic medicine

Published: April 06, 2023

Phenotypic expansion of ARSK-related mucopolysaccharidosis.

Phenotypic expansion of ARSK-related mucopolysaccharidosis.

Journal: American journal of medical genetics. Part A

Published: March 24, 2022

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Journal: American journal of medical genetics. Part A

Published: March 01, 2022

Correction: A woman in her fifties with chronic muscle weakness.

Correction: A woman in her fifties with chronic muscle weakness.

Journal: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke

Published: February 02, 2022

Showing 1-12 of 36

Last Updated: 09/26/2026