Marina Blenski

Statistics

Publications

Citations

221

H-Index

Active since

2015

Affiliations

Haukeland University Hospital(Current)

University of Bergen

Marina Blenski is an author at Haukeland University Hospital specializing in intellectual disability genetics, genetic syndromes, and molecular genetics.

Publications per year

2015–2018

Publications

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Chloé Saunier, Svein I. Støve, Bernt Popp et al. · Human Mutation · 2016 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

Jillian P. Casey, Svein I. Støve, Catherine McGorrian et al. · Scientific Reports · 2015 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

Svein I. Støve, Marina Blenski, Asbjørg Stray‐Pedersen et al. · European Journal of Human Genetics · 2018 · 44 citations

Medicine, Genetics, Molecular Genetics +12

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