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32199 publications found in the database

*2010 (1822)

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

2010 Publications

Conditional random pattern model for copy number aberration detection
Li, F. et al. BMC Bioinformatics 11(), NPG, 2010, Human Mapping 500K Array SetMapping 500K  PubMed

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development
Chao, R. et al. Plos One 5(5), NPG, 2010, Human Mapping 500K Array SetMapping 500K  PubMed

An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
Kuechler, A. et al. European Journal of Human Genetics 18(6), 656-61, 2010, Human Mapping 500K Array SetMapping 500K  PubMed

Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1
Genzer-Nir, M. et al. European Journal of Human Genetics 18(6), 662-7, 2010, Human Mapping 500K Array SetMapping 500K  PubMed

A null mutation in CABP4 causes Leber's congenital amaurosislike phenotype
Aldahmesh, M. A. et al. Molecular Vision 16(22-26), 207-12, 2010, Human Mapping 500K Array SetMapping 500K  PubMed

Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia
Muramatsu, H. et al. Blood 115(10), 1969-75, 2010, Human Mapping 500K Array SetMapping 500K  PubMed

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families
Shahin, H. et al. European Journal of Human Genetics 18(4), 407-13, 2010, Human Mapping 500K Array SetMapping 500K  PubMed

Genomic landscape of positive natural selection in Northern European populations
Lappalainen, T. et al. European Journal of Human Genetics 18(4), 471-8, 2010, Human Mapping 500K Array SetMapping 500K  PubMed

High-risk neuroblastoma tumors with 11q-deletion display a poor prognostic, chromosome instability phenotype with later onset
Caren, H. et al. Proceedings of the National Academy of Sciences of the United States of America 107(9), 4323-8, 2010, Human Mapping 500K Array SetMapping 500K  PubMed

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