Siv Fokstuen
Zurich, ZH, Switzerland
Last Updated: 09/26/2026
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Found 30 publications
Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?
Journal: Clinical genetics
Published: December 03, 2025
Genotype-phenotype correlations in patients with pathogenic/likely pathogenic titin variants from the Swiss Arrhythmogenic Cardiomyopathy Registry.
Journal: Open heart
Published: September 23, 2025
Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome.
Journal: Clinical genetics
Published: October 16, 2024
Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Journal: European heart journal
Published: September 18, 2024
Case report: desmoplakin cardiomyopathy presenting as an inflammatory cardiomyopathy with repeated sudden cardiac arrests.
Journal: European heart journal. Case reports
Published: August 23, 2023
Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment.
Journal: Child neurology open
Published: July 23, 2023
Rare causes of Hypophosphatemia: diagnostic approach
Journal: Revue medicale suisse
Published: May 03, 2023
Evolution and triggers of defibrillator shocks in patients with arrhythmogenic right ventricular cardiomyopathy.
Journal: Heart (British Cardiac Society)
Published: August 13, 2022
Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families.
Journal: Journal of clinical medicine
Published: July 27, 2022
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Journal: Clinical genetics
Published: March 31, 2021
Last Updated: 09/26/2026