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32199 publications found in the database

*2011 (1784)

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

2011 Publications

Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)
Khan, A. O. et al. Molecular Vision 17(107), 971-6, 2011  PubMed

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss
Huebner, A. K. et al. American Journal of Human Genetics 88(5), 621-7, 2011  PubMed

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
Duff, R. M. et al. American Journal of Human Genetics 88(6), 729-40, 2011  PubMed

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans
Pak, C. et al. Proceedings of the National Academy of Sciences of the United States of America 108(30), 12390-5, 2011  PubMed

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke
Xin, B. Z. et al. Proceedings of the National Academy of Sciences of the United States of America 108(13), 5372-7, 2011  PubMed

DPY19L2 Deletion as a Major Cause of Globozoospermia
Koscinski, I. et al. American Journal of Human Genetics 88(3), 344-50, 2011  PubMed

Hereditary Leukonychia, or Porcelain Nails, Resulting from Mutations in PLCD1
Kiuru, M. et al. American Journal of Human Genetics 88(6), 839-44, 2011  PubMed

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
Guelly, C. et al. American Journal of Human Genetics 88(1), 99-105, 2011  PubMed

Fast MCMC Sampling for Hidden Markov Models to Determine Copy Number Variations
Mahmud, M. P. et al. BMC Bioinformatics 12(), NPG, 2011, Mapping 100K Set  PubMed

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