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Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N. Latham SL, et al. Among authors: klink b. Nat Commun. 2018 Nov 19;9(1):4930. doi: 10.1038/s41467-018-07404-6. Nat Commun. 2018. PMID: 30451859 Free PMC article.
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K, Lößner AJ, William D, Czempiel T, Beyreuther E, Klimova A, Lehmann C, Schmäche T, Merker SR, Naumann M, Ada AM, Baenke F, Seidlitz T, Bütof R, Dietrich A, Krause M, Weitz J, Klink B, von Neubeck C, Stange DE. Pape K, et al. Among authors: klink b. Cancers (Basel). 2022 Oct 11;14(20):4984. doi: 10.3390/cancers14204984. Cancers (Basel). 2022. PMID: 36291768 Free PMC article.
Distinct phenotype of PHF6 deletions in females.
Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K. Di Donato N, et al. Among authors: klink b. Eur J Med Genet. 2014 Feb;57(2-3):85-9. doi: 10.1016/j.ejmg.2013.12.003. Epub 2013 Dec 28. Eur J Med Genet. 2014. PMID: 24380767
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Di Donato N, et al. Among authors: klink b. J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3. J Med Genet. 2016. PMID: 26843489
130 results