Publications by authors named "Isabella Wimplinger"

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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Juliane Najm, Denise Horn, Isabella Wimplinger, Jeffrey A Golden, Victor V Chizhikov

Nat Genet· September 2008

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Inhibition of aldehyde dehydrogenase type 2 attenuates vasodilatory action of nitroglycerin in human veins.
Martin W Huellner, Sonja Schrepfer, Michael Weyand, Henry Weiner, Isabella Wimplinger

FASEB J· July 2008

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Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
Isabella Wimplinger, Anita Rauch, Ulrike Orth, Ulrich Schwarzer, Udo Trautmann

Eur J Med Genet· March 2008

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HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
Isabella Wimplinger, Gary M Shaw, Kerstin Kutsche

Mol Vis· August 2007

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Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
Isabella Wimplinger, Manuela Morleo, Georg Rosenberger, Daniela Iaconis, Ulrike Orth

Am J Hum Genet· November 2006

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