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Page 1
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Nat Genet. 2010 Dec;42(12):1131-4. doi: 10.1038/ng.706. Epub 2010 Nov 7.
Nat Genet. 2010.
PMID: 21057504
Exome enrichment and SOLiD sequencing of formalin fixed paraffin embedded (FFPE) prostate cancer tissue.
Menon R, Deng M, Boehm D, Braun M, Fend F, Boehm D, Biskup S, Perner S.
Menon R, et al. Among authors: boehm d.
Int J Mol Sci. 2012;13(7):8933-8942. doi: 10.3390/ijms13078933. Epub 2012 Jul 17.
Int J Mol Sci. 2012.
PMID: 22942743
Free PMC article.
Clinical Trial.
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Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfäffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP; European-American Phaeochromocytoma Registry Study Group.
Bausch B, et al. Among authors: boehm d.
J Clin Endocrinol Metab. 2007 Jul;92(7):2784-92. doi: 10.1210/jc.2006-2833. Epub 2007 Apr 10.
J Clin Endocrinol Metab. 2007.
PMID: 17426081
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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.
Boehm D, Bacher J, Neumann HP.
Boehm D, et al.
Am J Kidney Dis. 2007 Jan;49(1):e11-21. doi: 10.1053/j.ajkd.2006.10.024.
Am J Kidney Dis. 2007.
PMID: 17185137
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Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.
Boehm D, Herold S, Kuechler A, Liehr T, Laccone F.
Boehm D, et al.
Hum Mutat. 2004 Apr;23(4):368-78. doi: 10.1002/humu.20011.
Hum Mutat. 2004.
PMID: 15024731
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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.
Auber B, Bruemmer V, Zoll B, Burfeind P, Boehm D, Liehr T, Brockmann K, Wilichowski E, Argyriou L, Bartels I.
Auber B, et al. Among authors: boehm d.
Mol Cytogenet. 2009 Mar 12;2:10. doi: 10.1186/1755-8166-2-10.
Mol Cytogenet. 2009.
PMID: 19284615
Free PMC article.
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