PuSH - Publication Server of Helmholtz Zentrum München

8 Records found.
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1.
Wesdorp, M.* et al.: MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, is essential for hearing in man and mouse. Am. J. Hum. Genet. 103, 74-88 (2018)
2.
Hermann, M.M.* et al.: Polymorphisms in vascular endothelial growth factor receptor 2 are associated with better response rates to ranibizumab treatment in age-related macular degeneration. Ophthalmology 121, 905-910 (2014)
3.
Roosing, S.* et al.: Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 93, 110-117 (2013)
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.
Thiadens, A.A.H.J.* et al.: Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet. 85, 240-247 (2009)
6.
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)
7.
den Hollander, A.I.* et al.: Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. Arch. Ophthalmol. 125, 932-935 (2007)
8.
den Hollander, A.I.* et al.: Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis. Am. J. Hum. Genet. 79, 556-561 (2006)