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Sabine Rudnik‐Schöneborn
Researcher Next ID · RN-040060
Researcher · Biochemistry, Genetics and Molecular Biology
Innsbruck, Austria
Accepting doctoral researchersFunding unknown
- Works count
- 570
- Citation count
- 11,390
- H-index
- 59
- i10-index
- 147
Research interests
Biochemistry, Genetics and Molecular Biology
Medicine
Neuroscience
Neurogenetic and Muscular Disorders Research
RNA modifications and cancer
Congenital Anomalies and Fetal Surgery
Genetic and Kidney Cyst Diseases
Genetic Neurodegenerative Diseases
Publications
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
Nature Genetics · 2005 · https://doi.org/10.1038/ng1678
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
Nature Genetics · 2001 · https://doi.org/10.1038/ng703
Current projects
No projects listed.