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Epidemiology of inherited epidermolysis bullosa in Germany.
Has C, Hess M, Anemüller W, Blume-Peytavi U, Emmert S, Fölster-Holst R, Frank J, Giehl K, Günther C, Hammersen J, Hillmann K, Höflein B, Hoeger PH, Hotz A, Mai TA, Oji V, Schneider H, Süßmuth K, Tantcheva-Póor I, Thielking F, Zirn B, Fischer J, Reimer-Taschenbrecker A. Has C, et al. Among authors: zirn b. J Eur Acad Dermatol Venereol. 2023 Feb;37(2):402-410. doi: 10.1111/jdv.18637. Epub 2022 Nov 1. J Eur Acad Dermatol Venereol. 2023. PMID: 36196047
Disorders Caused by Genetic Mosaicism.
Moog U, Felbor U, Has C, Zirn B. Moog U, et al. Among authors: zirn b. Dtsch Arztebl Int. 2020 Feb 21;116(8):119-125. doi: 10.3238/arztebl.2020.0119. Dtsch Arztebl Int. 2020. PMID: 32181732 Free PMC article. Review.
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Moog U, et al. Among authors: zirn b. J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27. J Med Genet. 2011. PMID: 21954287
Menkes disease with discordant phenotype in female monozygotic twins.
Burgemeister AL, Zirn B, Oeffner F, Kaler SG, Lemm G, Rossier E, Büttel HM. Burgemeister AL, et al. Among authors: zirn b. Am J Med Genet A. 2015 Nov;167A(11):2826-9. doi: 10.1002/ajmg.a.37276. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26239182 Free PMC article.
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H. Geis T, et al. Among authors: zirn b. Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0. Orphanet J Rare Dis. 2019. PMID: 31311558 Free PMC article.
Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.
Burgemeister AL, Daumiller E, Dietze-Armana I, Klett C, Freiberg C, Stark W, Lingen M, Centonze I, Rettenberger G, Mehnert K, Zirn B. Burgemeister AL, et al. Among authors: zirn b. Am J Med Genet A. 2017 Mar;173(3):727-732. doi: 10.1002/ajmg.a.38063. Epub 2017 Jan 27. Am J Med Genet A. 2017. PMID: 28127864 Review.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. Mitter D, et al. Among authors: zirn b. Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29. Genet Med. 2018. PMID: 28661489 Free article.
42 results