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32199 publications found in the database

*2010 (1822)

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

2010 Publications

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy
Agamy, O. et al. American Journal of Human Genetics 87(4), 538-44, 2010  PubMed

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Auer-Grumbach, M. et al. Nature Genetics 42(2), NPG, 2010  PubMed

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia
Azam, M. et al. Molecular Vision 16(87), 774-81, 2010  PubMed

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Valente, E. M. et al. Nature Genetics 42(7), NPG, 2010  PubMed

Tumor cells disseminate early, but immunosurveillance limits metastatic outgrowth, in a mouse model of melanoma
Eyles, J. et al. Journal of Clinical Investigation 120(6), 2030-9, 2010  PubMed

LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
Li, Y. et al. American Journal of Human Genetics 86(5), 696-706, 2010  PubMed

Gastric cancer cell line Hs746T harbors a splice site mutation of c-Met causing juxtamembrane domain deletion
Asaoka, Y. et al. Biochemical and Biophysical Research Communications 394(4), 1042-6, 2010, Mapping 100K Set  PubMed

Recurrent Interstitial 1p36 Deletions: Evidence for Germline Mosaicism and Complex Rearrangement Breakpoints
Gajecka, M. et al. American Journal of Medical Genetics Part a 152A(12), 3074-83, 2010, Mapping 100K Set  PubMed

Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene
Christensen, A. E. et al. Investigative Ophthalmology & Visual Science 51(1), 47-52, 2010, Mapping 100K Set  PubMed

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