Publications by authors named "Detlef Boehm"

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Exome enrichment and SOLiD sequencing of formalin fixed paraffin embedded (FFPE) prostate cancer tissue.
Roopika Menon, Mario Deng, Diana Boehm, Martin Braun, Falko Fend, Detlef Boehm

Int J Mol Sci· July 2015

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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Tobias B Haack, Katharina Danhauser, Birgit Haberberger, Jonathan Hoser, Valentina Strecker, Detlef Boehm

Nat Genet· December 2010

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Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.
Bernd Auber, Verena Bruemmer, Barbara Zoll, Peter Burfeind, Detlef Boehm

Mol Cytogenet· March 2009

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Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
Birke Bausch, Wiktor Borozdin, Victor F Mautner, Michael M Hoffmann, Detlef Boehm

J Clin Endocrinol Metab· July 2007

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Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay.
Detlef Boehm, Janina Bacher, Hartmut P H Neumann

Am J Kidney Dis· January 2007

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Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.
Detlef Boehm, Sabine Herold, Alma Kuechler, Thomas Liehr, Franco Laccone

Hum Mutat· April 2004

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