Fabienne Maurer
Lausanne, VD 1011, Switzerland
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.
Journal: Human molecular genetics
Published: November 07, 2025
High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder.
Journal: Hepatology communications
Published: April 22, 2024
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.
Journal: Journal of personalized medicine
Published: April 04, 2024
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Journal: European journal of medical genetics
Published: February 04, 2022
Identification and molecular characterisation of Lausanne Institutional Biobank participants with familial hypercholesterolaemia - a proof-of-concept study.
Journal: Swiss medical weekly
Published: August 07, 2016
RNAseq analysis of heart tissue from mice treated with atenolol and isoproterenol reveals a reciprocal transcriptional response.
Journal: BMC genomics
Published: January 23, 2016
Mapping genetic variants associated with beta-adrenergic responses in inbred mice.
Journal: PloS one
Published: February 21, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026