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32199 publications found in the database

*2012 (1980)

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

2012 Publications

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus
Spielmann, M. et al. American Journal of Human Genetics 91(4), 629-35, 2012  PubMed

GSA-PCA: gene set generation by principal component analysis of the Laplacian matrix of a metabolic network
Jacobson, D. et al. BMC Bioinformatics 13(), NPG, 2012, Yeast Genome 2.0 Array  PubMed

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Wu, C. H. et al. Nature 488(7412), NPG, 2012  PubMed

Linkage Replication for Chromosomal Region 13q32 in Schizophrenia: Evidence from a Brazilian Pilot Study on Early Onset Schizophrenia Families
Gadelha, A. et al. Plos One 7(12), NPG, 2012  PubMed

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardete-Biedl syndrome with situs inversus and insertional polydactyly
Marion, V. et al. Journal of Medical Genetics 49(5), 317-21, 2012  PubMed

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy
Desir, J. et al. Molecular Vision 18(191), 1849-57, 2012  PubMed

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V
Beetz, C. et al. American Journal of Human Genetics 91(1), 139-45, 2012  PubMed

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis
Imtiaz, F. et al. Molecular Vision 18(196), 1885-94, 2012  PubMed

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
Hughes, C. R. et al. Journal of Clinical Investigation 122(3), 814-20, 2012  PubMed

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