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Journal Abstract Search


166 related items for PubMed ID: 7627181

  • 21.
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  • 22. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
    Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A.
    Invest Ophthalmol Vis Sci; 2000 Dec; 41(13):4293-9. PubMed ID: 11095629
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  • 25. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
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  • 26. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.
    Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE.
    Mol Vis; 1998 Oct 06; 4():20. PubMed ID: 9772276
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  • 28. Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.
    Tamary H, Dgany O, Toledano H, Shalev Z, Krasnov T, Shalmon L, Schechter T, Bercovich D, Attias D, Laor R, Koren A, Yaniv I.
    Eur J Haematol; 2004 May 06; 72(5):330-5. PubMed ID: 15059067
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  • 29. Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
    Gastier JM, Berg MA, Vesterhus P, Reiter EO, Francke U.
    Hum Mutat; 2000 Oct 06; 16(4):323-33. PubMed ID: 11013443
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  • 30. Somatic mutations in the human homologue of Drosophila patched in primitive neuroectodermal tumours.
    Vorechovský I, Tingby O, Hartman M, Strömberg B, Nister M, Collins VP, Toftgård R.
    Oncogene; 1997 Jul 17; 15(3):361-6. PubMed ID: 9233770
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  • 37. Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
    Staropoli JF, Xin W, Sims KB.
    J Med Genet; 2010 Nov 17; 47(11):786-90. PubMed ID: 20679667
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  • 38. Screening the dopamine D1 receptor gene in 131 schizophrenics and eight alcoholics: identification of polymorphisms but lack of functionally significant sequence changes.
    Liu Q, Sobell JL, Heston LL, Sommer SS.
    Am J Med Genet; 1995 Apr 24; 60(2):165-71. PubMed ID: 7485254
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  • 39. Molecular diagnosis of hypophosphatasia with severe periodontitis.
    Watanabe H, Goseki-Sone M, Iimura T, Oida S, Orimo H, Ishikawa I.
    J Periodontol; 1999 Jun 24; 70(6):688-91. PubMed ID: 10397525
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