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Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
Int J Mol Sci. 2022 Jul 2;23(13):7382. doi: 10.3390/ijms23137382.
Int J Mol Sci. 2022.
PMID: 35806387
Free PMC article.
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J, Koller S, Bähr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W.
Maggi J, et al. Among authors: kivrak pfiffner f.
Int J Mol Sci. 2021 Feb 3;22(4):1508. doi: 10.3390/ijms22041508.
Int J Mol Sci. 2021.
PMID: 33546218
Free PMC article.
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Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
Gerth-Kahlert C, Koller S, Hanson JVM, Baehr L, Tiwari A, Kivrak-Pfiffner F, Bahr A, Berger W.
Gerth-Kahlert C, et al. Among authors: kivrak pfiffner f.
Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2822-2835. doi: 10.1167/iovs.18-25643.
Invest Ophthalmol Vis Sci. 2019.
PMID: 31260034
Free article.
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Probing Vasoreactivity and Hypoxic Phenotype in Different Tumor Grafts Grown on the Chorioallantoic Membrane of the Chicken Embryo In Ovo Using MRI.
Buschmann J, Heuberger DM, Kivrak Pfiffner F, Wolint P, Jang JH, Jungraithmayr W, Giovanoli P, Calcagni M, Waschkies CF.
Buschmann J, et al. Among authors: kivrak pfiffner f.
Cancers (Basel). 2022 Jun 25;14(13):3114. doi: 10.3390/cancers14133114.
Cancers (Basel). 2022.
PMID: 35804886
Free PMC article.
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A new in vivo magnetic resonance imaging method to noninvasively monitor and quantify the perfusion capacity of three-dimensional biomaterials grown on the chorioallantoic membrane of chick embryos.
Kivrak Pfiffner F, Waschkies C, Tian Y, Woloszyk A, Calcagni M, Giovanoli P, Rudin M, Buschmann J.
Kivrak Pfiffner F, et al.
Tissue Eng Part C Methods. 2015 Apr;21(4):339-46. doi: 10.1089/ten.TEC.2014.0212. Epub 2014 Nov 14.
Tissue Eng Part C Methods. 2015.
PMID: 25266825
Free article.
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The SPTLC3 subunit of serine palmitoyltransferase generates short chain sphingoid bases.
Hornemann T, Penno A, Rütti MF, Ernst D, Kivrak-Pfiffner F, Rohrer L, von Eckardstein A.
Hornemann T, et al. Among authors: kivrak pfiffner f.
J Biol Chem. 2009 Sep 25;284(39):26322-30. doi: 10.1074/jbc.M109.023192. Epub 2009 Aug 1.
J Biol Chem. 2009.
PMID: 19648650
Free PMC article.
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