Cornelia Potratz
Berlin, BE, Germany
Last Updated: 09/26/2026
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Found 11 publications
Implementation of a digital health tool for seizure video transfer in a pediatric epilepsy center: A prospective pilot study.
Journal: Epilepsy & behavior reports
Published: May 04, 2025
Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases.
Journal: Neuro-oncology practice
Published: July 15, 2024
LZTR1 loss-of-function variants associated with café au lait macules with or without freckling.
Journal: Frontiers in neurology
Published: February 25, 2024
Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.
Journal: Frontiers in neurology
Published: December 01, 2022
Bizarre Blasenbildung mit Vernarbung in früher Kindheit Auch an seltene syndromale Zusammenhänge denken!
Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: August 16, 2022
Bizarre blistering and scarring in infancy.
Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: July 01, 2022
Tumor load rather than contrast enhancement is associated with the visual function of children and adolescents with optic pathway glioma - a retrospective Magnetic Resonance Imaging study.
Journal: Journal of neuro-oncology
Published: November 23, 2021
Lessons learned from drug trials in neurofibromatosis: A systematic review.
Journal: European journal of medical genetics
Published: March 29, 2021
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
Journal: Journal of medical genetics
Published: March 24, 2021
Identifying challenges in neurofibromatosis: a modified Delphi procedure.
Journal: European journal of human genetics : EJHG
Published: October 15, 2020
Mediastinal mass in an tuberculosis-exposed 2-year old child with neurofibromatosis type 1 - TB or not TB?
Journal: Respiratory medicine case reports
Published: August 31, 2020
Showing 1-11 of 11
Last Updated: 09/26/2026