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32199 publications found in the database

*2014 (1694)

*Starting in 2010, coverage has been refocused on core journals.

2014 Publications

Anterior lentiplane associated with posterior lenticonus and microcornea
Lingao, M. D. et al. Journal of AAPOS 18(2), 191-2, 2014, CytoScan  PubMed

Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory
Wang, B. T. et al. Molecular Cytogenetics 7(33), 1-6, 2014, CytoScan  PubMed

Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results
Hemmat, M. et al. Molecular Cytogenetics 7(35), 1-20, 2014, CytoScan  PubMed

Genome-wide acquired uniparental disomy as well as chromosomal gains and losses in an uterine epithelioid leiomyoma
Holzmann, C. et al. Molecular Cytogenetics 7(19), 1-6, 2014, CytoScan  PubMed

Brain MRI Abnormalities and Spectrum of Neurological and Clinical Findings in Three Patients With Proximal 16p11.2 Microduplication
Filges, I. et al. American Journal of Medical Genetics Part a 164A(), 2003-12, 2014  PubMed

Somatic Mosaicism for the p.His1047Arg Mutation in PIK3CA in a Girl with Mesenteric Lipomatosis
Cohen, A. S. A. et al. American Journal of Medical Genetics Part a 164A(9), 2360-4, 2014, CytoScan  PubMed

Whole ARX Gene Duplication is Compatible With Normal Intellectual Development
Popovici, C. et al. American Journal of Medical Genetics Part a 164A(9), 2324-7, 2014, CytoScan  PubMed

Transcriptional Profiling of Wnt3a Mutants Identifies Sp Transcription Factors as Essential Effectors of the Wnt/beta-catenin Pathway in Neuromesodermal Stem Cells
Dunty, W. C. et al. Plos One 9(1), NPG, 2014, Mouse Genome 430 2.0 Array  PubMed

Coverage and efficiency in current SNP chips
Ha, N. T. et al. European Journal of Human Genetics 22(9), 1124-30, 2014  PubMed

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