Eugen Boltshauser

Zurich, ZH, Switzerland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 132 publications

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: July 06, 2026

Gait Variability in Children with Periventricular Leukomalacia and Perinatal Stroke: A Comparison of Between-Subject Variability.

Gait Variability in Children with Periventricular Leukomalacia and Perinatal Stroke: A Comparison of Between-Subject Variability.

Journal: Neuropediatrics

Published: June 05, 2026

Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated with SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-month-old Girl: A Case Report.

Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated with SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-month-old Girl: A Case Report.

Journal: Neuropediatrics

Published: January 20, 2026

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Journal: European journal of human genetics : EJHG

Published: May 27, 2024

Anatomic Basis of Neurologic Disease.

Anatomic Basis of Neurologic Disease.

Journal: Neuropediatrics

Published: May 22, 2024

Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex.

Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex.

Journal: Children (Basel, Switzerland)

Published: May 02, 2024

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.

Journal: Pediatric neurology

Published: January 14, 2024

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Journal: Neurology. Genetics

Published: November 20, 2023

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.

Journal: Developmental medicine and child neurology

Published: August 23, 2023

Laser interstitial thermal therapy in pediatric cerebellar epilepsy.

Laser interstitial thermal therapy in pediatric cerebellar epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: July 03, 2023

Showing 1-12 of 132

Last Updated: 09/26/2026