Concepedia

Reijo Norio

RN

Statistics

Publications

52

Citations

4.4K

H-Index

36

Active since

1967

Affiliations

University of Helsinki(Current)

Helsinki Children's Hospital

Helsinki University Hospital

University of Oulu

Reijo Norio is an author at University of Helsinki specializing in genetics, human genetics, and life sciences.

Publications per year

1967–2009

52

Publications

52

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

L Pennacchio, Anna‐Elina Lehesjoki, Nancy Stone et al. · Science · 1996 · 541 citations

Life Sciences, Genetics, Molecular Genetics +17

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C. Black, Anne Saarinen et al. · The American Journal of Human Genetics · 2003 · 376 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Hereditary diseases in Finland; rare flora in rare soul.

Reijo Norio, Nevanlinna Hr, Jaakko Perheentupa · PubMed · 1973 · 251 citations

Life Sciences, Genetics, Human Genetics +4

PROGRESSIVE MYOCLONUS EPILEPSY

Marjaleena Koskiniemi, M. Donner, H. Majuri et al. · Acta Neurologica Scandinavica · 2009 · 196 citations

Medicine, Neurology, Pediatrics +12

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Kimmo Virtaneva, Elena D’Amato, Jinmin Miao et al. · Nature Genetics · 1997 · 192 citations

Life Sciences, Genetics, Molecular Genetics +14

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