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91 results

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Page 1
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P. Gruber R, et al. Among authors: windpassinger c. J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. J Invest Dermatol. 2017. PMID: 28017832 Free PMC article. Review.
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Kaufmann L, Pilic J, Auinger L, Mayer AL, Blatterer J, Semmler-Bruckner J, Abbas S, Rehman K, Ayaz M, Graier WF, Malli R, Petek E, Wagner K, Al Kaissi A, Khan MA, Windpassinger C. Kaufmann L, et al. Among authors: windpassinger c. Clin Genet. 2023 Oct;104(4):491-496. doi: 10.1111/cge.14381. Epub 2023 Jun 4. Clin Genet. 2023. PMID: 37270786
Membrane topology of the human seipin protein.
Lundin C, Nordström R, Wagner K, Windpassinger C, Andersson H, von Heijne G, Nilsson I. Lundin C, et al. Among authors: windpassinger c. FEBS Lett. 2006 Apr 17;580(9):2281-4. doi: 10.1016/j.febslet.2006.03.040. Epub 2006 Mar 27. FEBS Lett. 2006. PMID: 16574104 Free article.
Consequences of mutations within the C terminus of the FHL1 gene.
Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C. Schoser B, et al. Among authors: windpassinger c. Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3. Neurology. 2009. PMID: 19687455
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Schulz E, Klampfl P, Holzapfel S, Janecke AR, Ulz P, Renner W, Kashofer K, Nojima S, Leitner A, Zebisch A, Wölfler A, Hofer S, Gerger A, Lax S, Beham-Schmid C, Steinke V, Heitzer E, Geigl JB, Windpassinger C, Hoefler G, Speicher MR, Boland CR, Kumanogoh A, Sill H. Schulz E, et al. Among authors: windpassinger c. Nat Commun. 2014 Oct 13;5:5191. doi: 10.1038/ncomms6191. Nat Commun. 2014. PMID: 25307848 Free PMC article.
91 results