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201 results

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Page 1
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, Wolfe L, Gahl WA, Boerkoel CF. Lawrence L, et al. Among authors: gill f. Genet Med. 2014 Oct;16(10):741-50. doi: 10.1038/gim.2014.29. Epub 2014 May 1. Genet Med. 2014. PMID: 24784157 Free PMC article.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. Gahl WA, et al. Among authors: gill f. Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237431 Free PMC article.
Renal glucosuria due to SGLT2 mutations.
Kleta R, Stuart C, Gill FA, Gahl WA. Kleta R, et al. Mol Genet Metab. 2004 May;82(1):56-8. doi: 10.1016/j.ymgme.2004.01.018. Mol Genet Metab. 2004. PMID: 15110322
IgG4-related disease presenting as recurrent mastoiditis.
Schiffenbauer AI, Wahl C, Pittaluga S, Jaffe ES, Hoffman R, Khosroshahi A, Stone JH, Deshpande V, Gahl WA, Gill F. Schiffenbauer AI, et al. Among authors: gill f. Laryngoscope. 2012 Mar;122(3):681-4. doi: 10.1002/lary.22486. Epub 2012 Jan 17. Laryngoscope. 2012. PMID: 22252885 Free PMC article. No abstract available.
NT5E mutations and arterial calcifications.
St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. St Hilaire C, et al. Among authors: gill f. N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923. N Engl J Med. 2011. PMID: 21288095 Free PMC article.
A randomized pilot study of systemic immunosuppression in the treatment of age-related macular degeneration with choroidal neovascularization.
Nussenblatt RB, Byrnes G, Sen HN, Yeh S, Faia L, Meyerle C, Wroblewski K, Li Z, Liu B, Chew E, Sherry PR, Friedman P, Gill F, Ferris F 3rd. Nussenblatt RB, et al. Among authors: gill f. Retina. 2010 Nov-Dec;30(10):1579-87. doi: 10.1097/IAE.0b013e3181e7978e. Retina. 2010. PMID: 20847709 Free PMC article. Clinical Trial.
201 results