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Page 1
In vivo analysis of cone survival in mice.
Beck SC, Schaeferhoff K, Michalakis S, Fischer MD, Huber G, Rieger N, Riess O, Wissinger B, Biel M, Bonin M, Seeliger MW, Tanimoto N. Beck SC, et al. Among authors: schaeferhoff k. Invest Ophthalmol Vis Sci. 2010 Jan;51(1):493-7. doi: 10.1167/iovs.09-4003. Epub 2009 Sep 8. Invest Ophthalmol Vis Sci. 2010. PMID: 19737879
Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice.
Schaeferhoff K, Michalakis S, Tanimoto N, Fischer MD, Becirovic E, Beck SC, Huber G, Rieger N, Riess O, Wissinger B, Biel M, Seeliger MW, Bonin M. Schaeferhoff K, et al. Cell Mol Life Sci. 2010 Sep;67(18):3173-86. doi: 10.1007/s00018-010-0376-9. Epub 2010 May 14. Cell Mol Life Sci. 2010. PMID: 20467778 Free PMC article.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: schaeferhoff k. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
Discordance between ultrasound and cell free DNA screening for monosomy X.
Kagan KO, Hoopmann M, Singer S, Schaeferhoff K, Dufke A, Mau-Holzmann UA. Kagan KO, et al. Among authors: schaeferhoff k. Arch Gynecol Obstet. 2016 Aug;294(2):219-24. doi: 10.1007/s00404-016-4077-y. Epub 2016 Mar 29. Arch Gynecol Obstet. 2016. PMID: 27022934 Review.
Defining the phenotypical spectrum associated with variants in TUBB2A.
Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Bahi-Buisson N, Meuwissen M, Jansen AC, Stouffs K. Brock S, et al. Among authors: schaeferhoff k. J Med Genet. 2021 Jan;58(1):33-40. doi: 10.1136/jmedgenet-2019-106740. Epub 2020 Jun 22. J Med Genet. 2021. PMID: 32571897 Free PMC article.