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Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C. Lang E, et al. Among authors: barthelmes d. Acta Ophthalmol. 2021 Jun;99(4):e594-e607. doi: 10.1111/aos.14615. Epub 2020 Sep 30. Acta Ophthalmol. 2021. PMID: 32996714 Free article.
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W. Neidhardt J, et al. Among authors: barthelmes d. Mol Vis. 2008 Jun 6;14:1081-93. Mol Vis. 2008. PMID: 18552978 Free PMC article.
Iris cyst in a child with Aicardi syndrome: a novel association.
Chappaz A, Barthelmes D, Buser L, Funk J, Gerth-Kahlert C. Chappaz A, et al. Among authors: barthelmes d. J AAPOS. 2016 Oct;20(5):451-452. doi: 10.1016/j.jaapos.2016.03.016. Epub 2016 Jun 16. J AAPOS. 2016. PMID: 27320016
200 results