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Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31.
Breast Cancer Res Treat. 2016.
PMID: 27581129
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: betcheva krajcir e.
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
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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: betcheva krajcir e.
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.
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Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-Wödl S, Schallner J, Di Donato N, Schröck E, Tzschach A.
Gieldon L, et al. Among authors: betcheva krajcir e.
Am J Med Genet A. 2017 Sep;173(9):2545-2550. doi: 10.1002/ajmg.a.38348. Epub 2017 Aug 4.
Am J Med Genet A. 2017.
PMID: 28777483
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Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
Porrmann J, Betcheva-Krajcir E, Di Donato N, Kahlert AK, Schallner J, Rump A, Schröck E, Dobritzsch D, Roelofsen J, van Kuilenburg ABP, Tzschach A.
Porrmann J, et al. Among authors: betcheva krajcir e.
Am J Med Genet A. 2017 Oct;173(10):2736-2742. doi: 10.1002/ajmg.a.38359. Epub 2017 Jul 25.
Am J Med Genet A. 2017.
PMID: 28742244
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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: betcheva krajcir e.
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.
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