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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Varon R, et al. Nat Genet. 2003 Oct;35(2):185-9. doi: 10.1038/ng1243. Epub 2003 Sep 21. Nat Genet. 2003. PMID: 14517542
Long-term follow-up in patients with CCFDN syndrome.
Walter MC, Bernert G, Zimmermann U, Müllner-Eidenböck A, Moser E, Kalaydjieva L, Lochmüller H, Müller-Felber W. Walter MC, et al. Among authors: mullner eidenbock a. Neurology. 2014 Oct 7;83(15):1337-44. doi: 10.1212/WNL.0000000000000874. Epub 2014 Sep 3. Neurology. 2014. PMID: 25186864
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.
Kalaydjieva L, Lochmüller H, Tournev I, Baas F, Beres J, Colomer J, Guergueltcheva V, Herrmann R, Karcagi V, King R, Miyata T, Müllner-Eidenböck A, Okuda T, Milic Rasic V, Santos M, Talim B, Vilchez J, Walter M, Urtizberea A, Merlini L. Kalaydjieva L, et al. Among authors: mullner eidenbock a. Neuromuscul Disord. 2005 Jan;15(1):65-71. doi: 10.1016/j.nmd.2004.09.008. Epub 2004 Nov 26. Neuromuscul Disord. 2005. PMID: 15639123 No abstract available.
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR. Hoornaert KP, et al. Among authors: mullner eidenbock a. J Med Genet. 2006 May;43(5):406-13. doi: 10.1136/jmg.2005.035717. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155195 Free PMC article.
Cellular reaction on the anterior surface of 4 types of intraocular lenses.
Müllner-Eidenböck A, Amon M, Schauersberger J, Kruger A, Abela C, Petternel V, Zidek T. Müllner-Eidenböck A, et al. J Cataract Refract Surg. 2001 May;27(5):734-40. doi: 10.1016/s0886-3350(01)00846-x. J Cataract Refract Surg. 2001. PMID: 11377905 Clinical Trial.
19 results