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32199 publications found in the database

*2012 (1980)

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

2012 Publications

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Selmer, K. K. et al. European Journal of Human Genetics 20(1), 58-63, 2012  PubMed

Brazilian urban population genetic structure reveals a high degree of admixture
Giolo, S. R. et al. European Journal of Human Genetics 20(1), 111-6, 2012, Genome-Wide Human SNP Array 6.0  PubMed

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
van den Bosch, B. J. C. et al. Journal of Medical Genetics 49(1), 10-5, 2012  PubMed

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation
Shamseldin, H. E. et al. Journal of Medical Genetics 49(1), 16-20, 2012  PubMed

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
Losekoot, M. et al. Journal of Medical Genetics 49(1), 37-40, 2012, Human Mapping 500K Array SetMapping 500K  PubMed

A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation
Dalgaard, M. D. et al. Journal of Medical Genetics 49(1), 58-65, 2012, Genome-Wide Human SNP Array 6.0  PubMed

LegumeIP: an integrative database for comparative genomics and transcriptomics of model legumes
Li, J. et al. Nucleic Acids Research 40(D1), D1221-9, 2012  PubMed

Comparative Metabolomic and Genomic Analyses of TCDD-Elicited Metabolic Disruption in Mouse and Rat Liver
Forgacs, A. L. et al. Toxicological Sciences 125(1), 41-55, 2012  PubMed

The Cutaneous Lesions of Dioxin Exposure: Lessons from the Poisoning of Victor Yushchenko
Saurat, J. H. et al. Toxicological Sciences 125(1), 310-7, 2012, Human Genome U133 Plus 2.0 Array  PubMed

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