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The Journal of Molecular Diagnostics : JMD|August 11, 2007
Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanomaCynthia Spittle, M Renee Ward, Katherine L Nathanson, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21Chad R Haldeman-Englert, Kimberly A Chapman, Hillary Kruger, et al.
Human Mutation|April 19, 2006
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arraysJeffrey E Ming, Elizabeth Geiger, Alison C James, et al.
BMC Gastroenterology|November 20, 2015
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case reportJudith R Kelsen, Noor Dawany, Alejandro Martinez, et al.
British Journal of Haematology|February 12, 2009
Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndromeDavid T Teachey, Robert Greiner, Alix Seif, et al.
Plos One|July 30, 2013
Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling networkZhe Zhang, Mai Tsukikawa, Min Peng, et al.
Clinical Chemistry|November 26, 2002
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technologyRosa Santacroce, Antonia Ratti, Francesco Caroli, et al.
Cancer Research|March 18, 2010
Serial transcriptome analysis and cross-species integration identifies centromere-associated protein E as a novel neuroblastoma targetNaomi J Balamuth, Andrew Wood, Qun Wang, et al.
Plos Biology|May 27, 2009
Transcriptional dysregulation in NIPBL and cohesin mutant human cellsJinglan Liu, Zhe Zhang, Masashige Bando, et al.
Cancer Research|June 17, 2006
Integrative genomics identifies distinct molecular classes of neuroblastoma and shows that multiple genes are targeted by regional alterations in DNA copy numberQun Wang, Sharon Diskin, Eric Rappaport, et al.
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