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- Mitochondrial DNA Transcription and Translation: Clinical Syndromes
- The Clinical, Biochemical and Genetic Features Associated with RMND1
- Mitochondrial Dysfunction and Kidney Disease
- Mutations in Mitochondrial Histidyl Trna Synthetase HARS2 Cause Ovarian Dysgenesis and Sensorineural Hearing Loss of Perrault Syndrome
- Next-Generation Sequencing of the Mitochondrial Genome And
- 2021 Update Claudio Borghi1*, Justyna Domienik-Karłowicz2, 3*, Andrzej Tykarski4, Krystyna Widecka5, Krzysztof J
- Oxygen Consumption in Platelets As an Adjunct Diagnostic Method for Pediatric Mitochondrial Disease
- Genetic and Drug-Induced Hypomagnesemia: Different Cause, Same Mechanism
- Renal Manifestations of Primary Mitochondrial Disorders (Review)
- 2021 Update Claudio Borghi1*, Justyna Domienik-Karłowicz2, 3*, Andrzej Tykarski4, Krystyna Widecka5, Krzysztof J
- Inborn Metabolic Diseases, DOI 10.1007/978-3-662-49771-5 , © Springer-Verlag Berlin Heidelberg 2016 644 Subject Index
- De Novo and Bi-Allelic Pathogenic Variants in NARS1 Cause
- And Ubiquitin Ligases (E3s)
- Leigh A.M. Demain
- Mackenzie's Mission Gene & Condition List
- Pulmonary Hypertension Is a Probable NO/ONOO− Cycle
- Genotypic and Phenotypic Spectrum of Mitochondrial Diseases with Focus on Early Onset Mitochondrial Encephalopathies
- A New Mutation in the Gene Encoding Mitochondrial Seryl-Trna