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2012 5
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Page 1
Ophthalmologic findings in Aicardi syndrome.
Fruhman G, Eble TN, Gambhir N, Sutton VR, Van den Veyver IB, Lewis RA. Fruhman G, et al. J AAPOS. 2012 Jun;16(3):238-41. doi: 10.1016/j.jaapos.2012.01.008. J AAPOS. 2012. PMID: 22681940 Free PMC article.
Assessment of bone mineral status in children with Marfan syndrome.
Grover M, Brunetti-Pierri N, Belmont J, Phan K, Tran A, Shypailo RJ, Ellis KJ, Lee BH. Grover M, et al. Am J Med Genet A. 2012 Sep;158A(9):2221-4. doi: 10.1002/ajmg.a.35540. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887731 Free PMC article.
SRC-2 is an essential coactivator for orchestrating metabolism and circadian rhythm.
Stashi E, Lanz RB, Mao J, Michailidis G, Zhu B, Kettner NM, Putluri N, Reineke EL, Reineke LC, Dasgupta S, Dean A, Stevenson CR, Sivasubramanian N, Sreekumar A, Demayo F, York B, Fu L, O'Malley BW. Stashi E, et al. Cell Rep. 2014 Feb 27;6(4):633-45. doi: 10.1016/j.celrep.2014.01.027. Epub 2014 Feb 13. Cell Rep. 2014. PMID: 24529706 Free PMC article.
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R. Eblimit A, et al. Hum Mol Genet. 2015 Mar 15;24(6):1584-601. doi: 10.1093/hmg/ddu573. Epub 2014 Nov 14. Hum Mol Genet. 2015. PMID: 25398945 Free PMC article.
11 results