Christine C. Makowski
Dr. Von Hauner Children's Hospital
Munich, BY, Germany
Munich, BY, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 37 publications
Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research Database.
Journal: Pediatric neurology
Published: March 06, 2026
Association of behavioral problems and health-related quality of life in children with epilepsy.
Journal: Epilepsy & behavior : E&B
Published: February 05, 2026
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: June 24, 2025
Influence of executive functions on quality of life in Pediatric Epilepsy: A cross-sectional study.
Journal: Epilepsy research
Published: April 10, 2025
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.
Journal: The Journal of pediatrics
Published: March 08, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: July 19, 2023
"Weak with Laughter"-Cataplexy as a Hint for Early Diagnosis of Niemann-Pick Type C?
Journal: Neuropediatrics
Published: December 01, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Journal: American journal of human genetics
Published: May 28, 2021
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Journal: Genome medicine
Published: May 17, 2021
Last Updated: 09/26/2026