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.
Boldt, K.* et al.: An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat. Commun. 7:11491 (2016)
3.
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)
4.
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)
5.
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)
6.
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)
7.
den Hollander, A.I.* et al.: Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat. Genet. 39, 889-895 (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)