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Publications by Stephanie Kleinle

Respiratory Chain Deficiency in Nonmitochondrial Disease

Neurology: Genetics

English

Whole Exome Sequencing and the Clinician: We Need Clinical Skills and Functional Validation in Variant Filtering

Journal of Neurology

English

Related publications

Multi-Level Heterogeneity of Mitochondrial Respiratory Chain Deficiency

Journal of Pathology

Forensic Medicine

English

Recurrent De Novo Mitochondrial DNA Mutations in Respiratory Chain Deficiency

Journal of Medical Genetics

English

Study of Respiratory Chain Dysfunction in Heart Disease

Journal of Cardiovascular and Thoracic Research

Cardiovascular Medicine

English

Respiratory-Chain Deficiency Presenting as Diffuse Mesangial Sclerosis With NPHS3 Mutation

Pediatric Nephrology

English

Acute and Chronic Mitochondrial Respiratory Chain Deficiency Differentially Regulate Lysosomal Biogenesis

Scientific Reports

Multidisciplinary

English

Respiratory Chain Dysfunction and Oxidative Stress Correlate With Severity of Primary CoQ10 Deficiency

Molecular Biology

English

Sensitivity of Respiratory Chain Activities to Lipid Peroxidation: Effect of Vitamin E Deficiency

Biochemical Journal

Molecular Biology

English

Tissue-Specific Loss of DARS2 Activates Stress Responses Independently of Respiratory Chain Deficiency in the Heart

Cell Metabolism

Molecular Biology

English

Dilated Form of Endocardial Fibroelastosis as a Result of Deficiency in Respiratory-Chain Complexes I and IV

Cardiovascular Medicine

English