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Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Mov Disord. 2007 May 15;22(7):932-7. doi: 10.1002/mds.21419.
Mov Disord. 2007.
PMID: 17415800
A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
Tsang SH, Tsui I, Chou CL, Zernant J, Haamer E, Iranmanesh R, Tosi J, Allikmets R.
Tsang SH, et al. Among authors: haamer e.
Am J Ophthalmol. 2008 Nov;146(5):780-8. doi: 10.1016/j.ajo.2008.06.017. Epub 2008 Aug 23.
Am J Ophthalmol. 2008.
PMID: 18723146
Free PMC article.
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Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.
Köhn L, Burstedt MS, Jonsson F, Kadzhaev K, Haamer E, Sandgren O, Golovleva I.
Köhn L, et al. Among authors: haamer e.
Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3172-7. doi: 10.1167/iovs.07-1664. Epub 2008 Mar 14.
Invest Ophthalmol Vis Sci. 2008.
PMID: 18344446
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Association of unilateral lattice corneal dystrophy on slit lamp and bilateral confocal microscopy features with H572R mutation in the TGFBI gene.
De Sousa Peixoto R, Mutch S, Eason J, Jaakson K, Haamer E, Maharajan VS.
De Sousa Peixoto R, et al. Among authors: haamer e.
Eye (Lond). 2019 Dec;33(12):1973-1975. doi: 10.1038/s41433-019-0508-x. Epub 2019 Jul 3.
Eye (Lond). 2019.
PMID: 31270466
Free PMC article.
No abstract available.
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