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Extended mutation spectrum of Usher syndrome in Finland.
Västinsalo H, Jalkanen R, Bergmann C, Neuhaus C, Kleemola L, Jauhola L, Bolz HJ, Sankila EM. Västinsalo H, et al. Among authors: sankila em. Acta Ophthalmol. 2013 Jun;91(4):325-34. doi: 10.1111/j.1755-3768.2012.02397.x. Epub 2012 Jun 8. Acta Ophthalmol. 2013. PMID: 22681893 Free article.
Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).
Västinsalo H, Jalkanen R, Dinculescu A, Isosomppi J, Geller S, Flannery JG, Hauswirth WW, Sankila EM. Västinsalo H, et al. Among authors: sankila em. Eur J Hum Genet. 2011 Jan;19(1):30-5. doi: 10.1038/ejhg.2010.140. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717163 Free PMC article.
Visual impairment in Finnish Usher syndrome type III.
Plantinga RF, Pennings RJ, Huygen PL, Sankila EM, Tuppurainen K, Kleemola L, Cremers CW, Deutman AF. Plantinga RF, et al. Among authors: sankila em. Acta Ophthalmol Scand. 2006 Feb;84(1):36-41. doi: 10.1111/j.1600-0420.2005.00507.x. Acta Ophthalmol Scand. 2006. PMID: 16445437 Free article.
A novel CACNA1F gene mutation causes Aland Island eye disease.
Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T. Jalkanen R, et al. Among authors: sankila em. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. doi: 10.1167/iovs.06-1103. Invest Ophthalmol Vis Sci. 2007. PMID: 17525176
Dominant optic atrophy: correlation between clinical and molecular genetic studies.
Puomila A, Huoponen K, Mäntyjärvi M, Hämäläinen P, Paananen R, Sankila EM, Savontaus ML, Somer M, Nikoskelainen E. Puomila A, et al. Among authors: sankila em. Acta Ophthalmol Scand. 2005 Jun;83(3):337-46. doi: 10.1111/j.1600-0420.2005.00448.x. Acta Ophthalmol Scand. 2005. PMID: 15948788 Free article.
60 results