Publications by authors named "Karin Schaeferhoff"

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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein

J Med Genet· January 2024

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Defining the phenotypical spectrum associated with variants in .
Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Karin Schaeferhoff

J Med Genet· January 2021

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Discordance between ultrasound and cell free DNA screening for monosomy X.
Karl Oliver Kagan, Markus Hoopmann, Sylke Singer, Karin Schaeferhoff, Andreas Dufke

Arch Gynecol Obstet· August 2016

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Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.
Martin Kehrer, Thomas Liehr, Tanja Benkert, Sylke Singer, Ute Grasshoff, Karin Schaeferhoff

Am J Med Genet A· March 2015

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Molecular and cell biological effects of 3,5,3'-triiodothyronine on progenitor cells of the enteric nervous system in vitro.
Roland Mohr, Peter Neckel, Ying Zhang, Susanne Stachon, Katharina Nothelfer, Karin Schaeferhoff

Stem Cell Res· November 2013

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Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies.
M Dominik Fischer, Naoyuki Tanimoto, Susanne C Beck, Gesine Huber, Karin Schaeferhoff

Adv Exp Med Biol· September 2011

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A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients.
Katharina Rall, Gianmaria Barresi, Michael Walter, Sven Poths, Karina Haebig, Karin Schaeferhoff

Orphanet J Rare Dis· May 2011

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In vivo analysis of cone survival in mice.
Susanne C Beck, Karin Schaeferhoff, Stylianos Michalakis, M Dominik Fischer, Gesine Huber

Invest Ophthalmol Vis Sci· January 2010

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Periphilin is strongly expressed in the murine nervous system and is indispensable for murine development.
Anne S Soehn, Thu-Trang Pham, Karin Schaeferhoff, Thomas Floss, Daniela M Vogt Weisenhorn

Genesis· October 2009

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