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Publications by Ewa Pronicka
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy
American Journal of Human Genetics
Genetics
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
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
A Scoring System Predicting the Clinical Course of CLPB Defect Based on the Foetal and Neonatal Presentation of 31 Patients
Journal of Inherited Metabolic Disease
Genetics
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
