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Publications by Katharina Steindl

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics

English

Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

American Journal of Human Genetics

English

N8-Acetylspermidine as a Potential Plasma Biomarker for Snyder-Robinson Syndrome Identified by Clinical Metabolomics

Journal of Inherited Metabolic Disease

English