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Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.
J Invest Dermatol. 2009 Apr;129(4):862-9. doi: 10.1038/jid.2008.311. Epub 2008 Oct 9.
J Invest Dermatol. 2009.
PMID: 18843291
Free article.
Full-thickness human skin models for congenital ichthyosis and related keratinization disorders.
Eckl KM, Alef T, Torres S, Hennies HC.
Eckl KM, et al. Among authors: alef t.
J Invest Dermatol. 2011 Sep;131(9):1938-42. doi: 10.1038/jid.2011.126. Epub 2011 May 19.
J Invest Dermatol. 2011.
PMID: 21593769
Free article.
No abstract available.
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A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P.
Hussain MS, et al. Among authors: alef t.
Am J Hum Genet. 2012 May 4;90(5):871-8. doi: 10.1016/j.ajhg.2012.03.016. Epub 2012 Apr 19.
Am J Hum Genet. 2012.
PMID: 22521416
Free PMC article.
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Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families.
Major T, Gindele R, Szabó Z, Alef T, Thiele B, Bora L, Kis Z, Bárdossy P, Rácz T, Havacs I, Bereczky Z.
Major T, et al. Among authors: alef t.
Clin Genet. 2016 Nov;90(5):466-467. doi: 10.1111/cge.12806. Epub 2016 Jun 12.
Clin Genet. 2016.
PMID: 27291782
No abstract available.
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