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32199 publications found in the database

*2013 (2117)

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

2013 Publications

STaRRRT: a table of short tandem repeats in regulatory regions of the human genome
Bolton, K. A. et al. BMC Genomics 14(), NPG, 2013  PubMed

Co-Occurrence of 22q11 Deletion Syndrome and HDR Syndrome
Fukai, R. et al. American Journal of Medical Genetics Part a 161(10), 2576-81, 2013  PubMed

Metabolite and transcriptome analysis during fasting suggest a role for the p53-Ddit4 axis in major metabolic tissues
Schupp, M. et al. BMC Genomics 14(), NPG, 2013  PubMed

5q31.3 Microdeletion Syndrome: Clinical and Molecular Characterization of Two Further Cases
Brown, N. et al. American Journal of Medical Genetics Part a 161(10), 2604-8, 2013, Genome-Wide Human SNP Array 6.0  PubMed

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
Edvardson, S. et al. Journal of Medical Genetics 50(11), 733-9, 2013  PubMed

The Hutterite Variant of Treacher Collins Syndrome: A 28-Year-Old Story Solved
Caluseriu, O. et al. American Journal of Medical Genetics Part a 161(11 Sp Iss SI), 2855-9, 2013  PubMed

Biallelic SEMA3A Defects Cause a Novel Type of Syndromic Short Stature
Hofmann, K. et al. American Journal of Medical Genetics Part a 161(11 Sp Iss SI), 2880-9, 2013, Genome-Wide Human SNP Array 6.0  PubMed

Pathophysiological Defects and Transcriptional Profiling in the RBM20(-/-) Rat Model
Guo, W. et al. Plos One 8(12), NPG, 2013, Rat Genome 230 2.0 Array  PubMed

The Transcriptomic Response of Rat Hepatic Stellate Cells to Endotoxin: Implications for Hepatic Inflammation and Immune Regulation
Harvey, S. A. K. et al. Plos One 8(12), NPG, 2013, Rat Genome 230 2.0 Array  PubMed

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