PuSH - Publication Server of Helmholtz Zentrum München

13 Records found.
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1.
Wesdorp, M.* et al.: Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. Hum. Genet. 137, 389-400 (2018)
2.
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)
3.
Boldt, K.* et al.: An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat. Commun. 7:11491 (2016)
4.
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)
5.
Shafique, S.* et al.: Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. PLoS ONE 9:e100146 (2014)
6.
Cevik, S.* et al.: Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. PLoS Genet. 9:e1003977 (2013)
7.
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)
8.
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)
9.
Weegerink, N.J.* et al.: Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J. Assoc. Res. Otolaryngol. 12, 756-766 (2011)
10.
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)
11.
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)
12.
Collin, R.W.* et al.: Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum. Mutat. 28, 718-723 (2007)
13.
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)