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32199 publications found in the database

*2012 (1980)

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

2012 Publications

RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex
Kia, S. K. et al. American Journal of Human Genetics 91(3), 533-40, 2012, Genome-Wide Human SNP Array 6.0  PubMed

Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
Parry, D. A. et al. American Journal of Human Genetics 91(3), 565-71, 2012, Genome-Wide Human SNP Array 6.0  PubMed

Genome-Wide SNP Genotyping Identifies the Stereocilin (STRC) Gene as a Major Contributor to Pediatric Bilateral Sensorineural Hearing Impairment
Francey, L. J. et al. American Journal of Medical Genetics Part a 158A(2), 298-308, 2012, Human Mapping 500K Array SetMapping 500K  PubMed

Peripheral Blood Gene Expression as a Novel Genomic Biomarker in Complicated Sarcoidosis
Zhou, T. et al. Plos One 7(9), NPG, 2012  PubMed

Brain Transcriptional and Epigenetic Associations with Autism
Ginsberg, M. R. et al. Plos One 7(9), NPG, 2012, Genome-Wide Human SNP Array 6.0  PubMed

Dominant and Recessive Forms of Fibrochondrogenesis Resulting From Mutations at a Second Locus, COL11A2
Tompson, S. W. et al. American Journal of Medical Genetics Part a 158A(2), 309-14, 2012, Human Mapping 500K Array SetMapping 500K  PubMed

Differentially Expressed Genes Regulating the Progression of Ductal Carcinoma In Situ to Invasive Breast Cancer
Lee, S. et al. Cancer Research 72(17), 4574-86, 2012  PubMed

Human Mesenchymal Stem/Stromal Cells Cultured as Spheroids Are Self-Activated to Produce Prostaglandin E2 that Directs Stimulated Macrophages into an Anti-inflammatory Phenotype
Ylostalo, J. H. et al. Stem Cells 30(10), 2283-96, 2012  PubMed

Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia
Nielsen, M. et al. Journal of Medical Genetics 49(9), 598-600, 2012  PubMed

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