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Integrating Genotype-Phenotype Correlations into Precision Medicine: Towards Individualized Patient Management, Preventive Strategies, and Advanced Diagnostics in Mitochondrial Diseases

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Tartalom: https://doktori.bibl.u-szeged.hu/id/eprint/13069/
Archívum: SZTE Doktori Értekezések Repozitórium
Gyűjtemény: Tudományterületek = Orvostudományok
Típus = Disszertáció
Cím:
Integrating Genotype-Phenotype Correlations into Precision Medicine: Towards Individualized Patient Management, Preventive Strategies, and Advanced Diagnostics in Mitochondrial Diseases
Létrehozó:
Jimoh Idris János
Dátum:
2026-05-29
Téma:
03.01.03. Humángenetika
Tartalmi leírás:
Diseases associated with mitochondrial dysfunction present with a wide spectrum of clinical symptoms, posing a significant challenge for both genetic counseling and clinical patient management, particularly regarding predictions at both the family and individual levels. The aim of the research is to conduct a detailed investigation into the genetic background and clinical manifestations of these conditions. Through the analysis of individual and cohort-level clinical data, we aim to map phenotypic variability. In addition to exploring the phenotypic spectrum and genetic background, our goal is to identify biomarkers and risk factors that may predict disease progression. A key objective of the research is to develop individualized care strategies, including disease-specific management plans based on genomic data and the interdisciplinary planning of patient care pathways.
Nyelv:
angol
angol
angol
angol
magyar
angol
magyar
angol
Típus:
Disszertáció
NonPeerReviewed
Formátum:
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Azonosító:
Jimoh Idris János Integrating Genotype-Phenotype Correlations into Precision Medicine: Towards Individualized Patient Management, Preventive Strategies, and Advanced Diagnostics in Mitochondrial Diseases. Doktori értekezés, Szegedi Tudományegyetem (2000-). (2026)
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