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Publications by Elżbieta Jurkiewicz

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy

American Journal of Human Genetics

English

New Perspective in Diagnostics of Mitochondrial Disorders: Two Years’ Experience With Whole-Exome Sequencing at a National Paediatric Centre

Journal of Translational Medicine

Molecular Biology

English

Mild Phenotype of Glutaric Aciduria Type 1 in Polish Patients – Novel Data From a Group of 13 Cases

Metabolic Brain Disease

Molecular Neuroscience

English

Paediatric Cushing’s Disease — A Literature Review of Epidemiology, Pathogenesis, Clinical Symptoms, and Diagnostics

Endokrynologia Polska

English

Neuropathological Characteristics of the Brain in Two Patients With SLC19A3 Mutations Related to the Biotin-Thiamine-Responsive Basal Ganglia Disease

Folia Neuropathologica

Forensic Medicine

English

Original Article Angiocentric Glioma: A Rare Intractable Epilepsy-Related Tumour in Children

Folia Neuropathologica

Forensic Medicine

English