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Publications by Barbara Plecko

Molecular Diagnosis in Mitochondrial Complex I Deficiency Using Exome Sequencing

Journal of Medical Genetics

English

Missense Variant in CCDC22 Causes X-Linked Recessive Intellectual Disability With Features of Ritscher-Schinzel/3c Syndrome

European 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

Disorders Affecting Vitamin B6 Metabolism

Journal of Inherited Metabolic Disease

English

News on Neuropediatrics

Neuropediatrics

English

Peter-Emil-Becker-Price 2013

Neuropediatrics

English