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Page 1
Chromosome aberration associated with hippocampal impairment.
Haussmann R, Meissner G, Linn J, Hackmann K, Betcheva-Krajcir E, Tzschach A, Donix M. Haussmann R, et al. Among authors: hackmann k. Psychiatry Res Neuroimaging. 2016 Aug 30;254:1-2. doi: 10.1016/j.pscychresns.2016.05.007. Epub 2016 Jun 2. Psychiatry Res Neuroimaging. 2016. PMID: 27285109 No abstract available.
HBOC multi-gene panel testing: comparison of two sequencing centers.
Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schröck E, Bauer P, Rump A. Schroeder C, et al. Among authors: hackmann k. Breast Cancer Res Treat. 2015 Jul;152(1):129-136. doi: 10.1007/s10549-015-3429-9. Epub 2015 May 29. Breast Cancer Res Treat. 2015. PMID: 26022348
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavičius R, Macháčková E, Foretová L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, DiDonato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, Schröck E, Klink B. Rump A, et al. Among authors: hackmann k. PLoS Genet. 2016 Aug 9;12(8):e1006248. doi: 10.1371/journal.pgen.1006248. eCollection 2016 Aug. PLoS Genet. 2016. PMID: 27504877 Free PMC article.
Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.
Gieldon L, Masjkur JR, Richter S, Därr R, Lahera M, Aust D, Zeugner S, Rump A, Hackmann K, Tzschach A, Januszewicz A, Prejbisz A, Eisenhofer G, Schrock E, Robledo M, Klink B. Gieldon L, et al. Among authors: hackmann k. Eur J Endocrinol. 2018 Feb;178(2):K1-K9. doi: 10.1530/EJE-17-0714. Epub 2017 Nov 20. Eur J Endocrinol. 2018. PMID: 29158289
Novel truncating PPM1D mutation in a patient with intellectual disability.
Porrmann J, Rump A, Hackmann K, Di Donato N, Kahlert AK, Wagner J, Jahn A, Eger I, Flury M, Schrock E, Tzschach A, Gieldon L. Porrmann J, et al. Among authors: hackmann k. Eur J Med Genet. 2019 Jan;62(1):70-72. doi: 10.1016/j.ejmg.2018.05.006. Epub 2018 May 11. Eur J Med Genet. 2019. PMID: 29758292
Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion.
Lenk J, Porrmann J, Smitka M, Eger I, Schröck E, Hackmann K, Herber R, Raiskup F, Tzschach A. Lenk J, et al. Among authors: hackmann k. Ophthalmic Genet. 2018 Oct;39(5):645-647. doi: 10.1080/13816810.2018.1502792. Epub 2018 Jul 30. Ophthalmic Genet. 2018. PMID: 30058938
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Gieldon L, et al. Among authors: hackmann k. PLoS One. 2018 Aug 9;13(8):e0201041. doi: 10.1371/journal.pone.0201041. eCollection 2018. PLoS One. 2018. PMID: 30091983 Free PMC article.
76 results