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Publications by Dorota Piekutowska-Abramczuk
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy
American Journal of Human Genetics
Genetics
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
New Perspective in Diagnostics of Mitochondrial Disorders: Two Years’ Experience With Whole-Exome Sequencing at a National Paediatric Centre
Journal of Translational Medicine
Biochemistry
Medicine
Genetics
Molecular Biology
Neuropathological Characteristics of the Brain in Two Patients With SLC19A3 Mutations Related to the Biotin-Thiamine-Responsive Basal Ganglia Disease
Folia Neuropathologica
Forensic Medicine
Pathology
Neurology
Bilateral Striatal Necrosis Caused by ADAR Mutations in Two Siblings With Dystonia and Freckles-Like Skin Changes That Should Be Differentiated From Leigh Syndrome
Folia Neuropathologica
Forensic Medicine
Pathology
Neurology
No Evidence for Association of SCO2 Heterozygosity With High-Grade Myopia or Other Diseases With Possible Mitochondrial Dysfunction
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
