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Publications by Joanna Trubicka
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy
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
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
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Preexposure Prophylaxis for Prevention of HIV Acquisition Among Adolescents: Clinical Considerations, 2020
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Spatial Organization and Signal Transduction at Intercellular Junctions
Nature Reviews Molecular Cell Biology
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Talins and Kindlins: Partners in Integrin-Mediated Adhesion
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Cell Biology
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Molecular Control of Endothelial Cell Behaviour During Blood Vessel Morphogenesis
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Multidimensional Proteomics for Cell Biology
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DNA Methylation Pathways and Their Crosstalk With Histone Methylation
Nature Reviews Molecular Cell Biology
Cell Biology
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Transcriptional Integration of Metabolism by the Nuclear Sterol-Activated Receptors LXR and FXR
Nature Reviews Molecular Cell Biology
Cell Biology
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Tail-Anchored Membrane Protein Insertion Into the Endoplasmic Reticulum
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Dynamin, a Membrane-Remodelling GTPase
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