2024
Kaufmann, L
Identification of two novel disease-causing mutations in pleiotropic genes resulting in unexpected phenotypes due to loss-of-function escape mechanisms
Doktoratsstudium der Medizinischen Wissenschaft; Humanmedizin; [ Dissertation ] Medizinische Universität Graz; 2024. pp. 108
[OPEN ACCESS]
FullText
Schaflinger, E
Next-generation sequencing in the context of useful and possible clinical applications in peripheral hospitals
Doktoratsstudium der Medizinischen Wissenschaft; Humanmedizin; [ Dissertation ] Medizinische Universität Graz; 2024. pp. 83
[OPEN ACCESS]
FullText
2011
Poparic, I
Mutations in FHL1 impair expression and functionality of potassium voltage-gated channel Kv1.5 in myopathy patients
[ Dissertation ] Medical University of Graz; 2011. pp. 99
[OPEN ACCESS]
FullText
2007
Ofner, L
Characterisation of cellular events leading to neurodegeneration in Silver syndrome.
[ Dissertation ] Graz Medical University; 2007. pp.144.
Schwarzbraun, T
Systematic analysis of patients with subtle genomic aberrations - How genotype/phenotype correlation can help to identify candidate genes and to elucidate gene function.
[ Dissertation ] Graz Medical University; 2007.
2005
Jud, D
Funktionelle Studien zur Expression und Lokalisation von Seipin.
[ Diplomarbeit/Master Thesis ] Graz Medical University; 2005. pp.83.
2004
Ofner, L
Multiplex Amplifiable Probe Hybridisation - Analysen in Familien mit Duchenne und Becker Muskeldystrophie
[ Diplomarbeit/Master Thesis ] Medizinische Universität Graz; 2004.
Petek, E
Application of Genomic Strategies to Study the Human Biology of Rare and Complex Genetic Diseases
[ Dissertation ] Graz Medical University; 2004.