Concepedia
Statistics
Publications
3
Citations
273
H-Index
Active since
2011
Affiliations
University of Helsinki(Current)
Helsinki University Hospital
Rosanna Pöyhönen is an author at University of Helsinki specializing in medicine, genetics, and glaucoma.
Top concepts
GeneticsMedicineGlaucomaNeurologyCell BiologyNeuroanatomyNeuroscienceNeurogeneticsOphthalmologyNeuropathology
Publications per year
2011–2013
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
Christopher J. Carroll, Pirjo Isohanni, Rosanna Pöyhönen et al. · Journal of Medical Genetics · 2013 · 99 citations
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
Henna Tyynismaa, Ren Sun, Sofia Ahola et al. · Human Molecular Genetics · 2011 · 98 citations
Ocular Disease, Mendelian Disorder, Ophthalmology +12
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy
Emil Ylikallio, Rosanna Pöyhönen, M. Zimoń et al. · Human Molecular Genetics · 2013 · 76 citations · Full text
Genetics, Intermediate Filament, Disease Gene Identification +22
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