PuSH - Publication Server of Helmholtz Zentrum München

7 Records found.
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1.
Schraders, M.* et al.: Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am. J. Hum. Genet. 91, 883-889 (2012)
2.
Siemiatkowska, A.M.* et al.: Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol. Vis. 17, 3013-3024 (2011)
3.
Weegerink, N.J.* et al.: Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J. Assoc. Res. Otolaryngol. 12, 756-766 (2011)
4.
Nikopoulos, K.* et al.: Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am. J. Hum. Genet. 86, 240-247 (2010)
5.
Schraders, M.* et al.: Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am. J. Hum. Genet. 86, 604-610 (2010)
6.
Collin, R.W.* et al.: Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum. Mutat. 28, 718-723 (2007)
7.
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)