PuSH - Publication Server of Helmholtz Zentrum München

5 Records found.
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1.
Seco, C.Z.* et al.: Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. Eur. J. Hum. Genet. 24, 542-549 (2016)
2.
Shafique, S.* et al.: Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. PLoS ONE 9:e100146 (2014)
3.
Azam, M.* et al.: Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. Arch. Ophthalmol. 129, 1377-1378 (2011)
4.
Collin, R.W.* et al.: High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Invest. Ophthalmol. Vis. Sci. 52, 2227-2239 (2011)
5.
Azam, M.* et al.: Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol. Vis. 16, 774-781 (2010)