Julian Schroter
Heidelberg, BW, Germany
Last Updated: 09/26/2026
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Found 27 publications
Clinical and genetic diagnostic challenges in presumed hereditary ataxia.
Journal: Journal of neurology
Published: January 28, 2026
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.
Journal: Genome medicine
Published: November 04, 2025
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.
Journal: Orphanet journal of rare diseases
Published: July 31, 2024
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 05, 2023
Key point generation as an instrument for generating core statements of a political debate on Twitter.
Journal: Frontiers in artificial intelligence
Published: May 31, 2023
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Journal: Journal of inherited metabolic disease
Published: January 25, 2023
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Journal: Journal of inherited metabolic disease
Published: November 01, 2022
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.
Journal: Computational and structural biotechnology journal
Published: October 14, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 01, 2022
Last Updated: 09/26/2026