PuSH - Publication Server of Helmholtz Zentrum München

8 Records found.
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1.
Collin, R.W.* et al.: ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc. Natl. Acad. Sci. U.S.A. 110, 9856-9861 (2013)
2.
Azam, M.* et al.: Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. Arch. Ophthalmol. 129, 1377-1378 (2011)
3.
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)
4.
Siemiatkowska, A.M.* et al.: Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol. Vis. 17, 3013-3024 (2011)
5.
Collin, R.W.* et al.: Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am. J. Hum. Genet. 83, 594-603 (2008)
6.
Collin, R.W.* et al.: Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. Eur. J. Hum. Genet. 16, 1430-1436 (2008)
7.
Collin, R.W.* et al.: Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum. Mutat. 28, 718-723 (2007)
8.
Kalay, E.* et al.: Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 27, 633-639 (2006)