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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: kottke r. Acta Ophthalmol. 2021 Jun;99(4):e594-e607. doi: 10.1111/aos.14615. Epub 2020 Sep 30. Acta Ophthalmol. 2021. PMID: 32996714 Free article.
Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1.
Bölsterli BK, Steindl K, Kottke R, Steinfeld R, Boltshauser E. Bölsterli BK, et al. Among authors: kottke r. Neuropediatrics. 2021 Jun;52(3):227. doi: 10.1055/s-0040-1722690. Epub 2021 Jan 28. Neuropediatrics. 2021. PMID: 33511591 No abstract available.
The "Eyelet Sign" as an MRI Clue for Inflammatory Brown Syndrome.
Fierz FC, Landau K, Kottke R, Wichmann W, Sturm V, Weber KP, Gerth-Kahlert C. Fierz FC, et al. Among authors: kottke r. J Neuroophthalmol. 2022 Mar 1;42(1):115-120. doi: 10.1097/WNO.0000000000001237. Epub 2021 Apr 14. J Neuroophthalmol. 2022. PMID: 33870947
Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.
Rechsteiner D, Issler L, Koller S, Lang E, Bähr L, Feil S, Rüegger CM, Kottke R, Toelle SP, Zweifel N, Steindl K, Joset P, Zweier M, Suter AA, Gogoll L, Haas C, Berger W, Gerth-Kahlert C. Rechsteiner D, et al. Among authors: kottke r. JAMA Ophthalmol. 2021 Jul 1;139(7):691-700. doi: 10.1001/jamaophthalmol.2021.0385. JAMA Ophthalmol. 2021. PMID: 34014271 Free PMC article.
Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child.
Borlin PR, Brazzola P, Frontzek K, Zanoni P, Morscher RJ, Hench J, Frank S, Kottke R, Rushing EJ, Goeggel Simonetti B, Steindl K, Guerreiro Stucklin AS. Borlin PR, et al. Among authors: kottke r. Pediatr Blood Cancer. 2022 Oct;69(10):e29680. doi: 10.1002/pbc.29680. Epub 2022 Apr 4. Pediatr Blood Cancer. 2022. PMID: 35373906 No abstract available.
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.
Kivrak Pfiffner F, Koller S, Ménétrey A, Graf U, Bähr L, Maspoli A, Hackenberg A, Kottke R, Gerth-Kahlert C, Berger W. Kivrak Pfiffner F, et al. Among authors: kottke r. Int J Mol Sci. 2022 Jul 2;23(13):7382. doi: 10.3390/ijms23137382. Int J Mol Sci. 2022. PMID: 35806387 Free PMC article.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J. Vavassori S, et al. Among authors: kottke r. J Allergy Clin Immunol. 2021 Aug;148(2):381-393. doi: 10.1016/j.jaci.2021.03.045. Epub 2021 Apr 17. J Allergy Clin Immunol. 2021. PMID: 33872655 Free PMC article. Clinical Trial.
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K. Schröder S, et al. Among authors: kottke r. Genet Med. 2021 Feb;23(2):341-351. doi: 10.1038/s41436-020-00979-w. Epub 2020 Oct 7. Genet Med. 2021. PMID: 33024317 Free PMC article.
67 results