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Journal Abstract Search

90 related items for PubMed ID: 17200654

  • 21.
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  • 23. Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians.
    Zadra G, Asselta R, Tenchini ML, Castaman G, Seligsohn U, Mannucci PM, Duga S.
    Haematologica; 2008 May; 93(5):715-21. PubMed ID: 18387979
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  • 24. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
    Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI.
    Invest Ophthalmol Vis Sci; 2009 May; 50(5):2344-50. PubMed ID: 19074807
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  • 26. Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
    Hayashi T, Goto-Omoto S, Takeuchi T, Gekka T, Ueoka Y, Kitahara K.
    Acta Ophthalmol Scand; 2006 Apr; 84(2):254-8. PubMed ID: 16637847
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  • 27. Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
    Oishi A, Akimoto M, Kawagoe N, Mandai M, Takahashi M, Yoshimura N.
    Am J Ophthalmol; 2007 Sep; 144(3):475-7. PubMed ID: 17765441
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  • 28. Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.
    Pilotto E, Trevisson E, Nacci EB, Longhin E, Guidolin F, Midena E.
    Eur J Ophthalmol; 2022 Nov; 32(6):NP1-NP5. PubMed ID: 34162253
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  • 29. Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.
    Ballios BG, Weisbrod D, Kohly R, Muni RH, Wright T, Yan P.
    Doc Ophthalmol; 2020 Oct; 141(2):181-185. PubMed ID: 32146548
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  • 30. Detection of three common G6PD gene mutations in Chinese individuals by probe melting curves.
    Zhang DT, Hu LH, Yang YZ.
    Clin Biochem; 2005 Apr; 38(4):390-4. PubMed ID: 15766741
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  • 31. Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
    Humbert G, Delettre C, Sénéchal A, Bazalgette C, Barakat A, Bazalgette C, Arnaud B, Lenaers G, Hamel CP.
    Invest Ophthalmol Vis Sci; 2006 Nov; 47(11):4719-24. PubMed ID: 17065479
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  • 33. Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene.
    Nakazawa M, Wada Y, Fuchs S, Gal A, Tamai M.
    Retina; 1997 Nov; 17(1):17-22. PubMed ID: 9051837
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  • 34. Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
    Wei X, Li H, Wu S, Zhu T, Sui R.
    Doc Ophthalmol; 2023 Feb; 146(1):17-32. PubMed ID: 36417138
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  • 36. A common NYX mutation in Flemish patients with X linked CSNB.
    Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C.
    Br J Ophthalmol; 2009 May; 93(5):692-6. PubMed ID: 18617546
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  • 38. Multiplex real-time SYBR Green I PCR assay for detection of tetracycline efflux genes of Gram-negative bacteria.
    Fan W, Hamilton T, Webster-Sesay S, Nikolich MP, Lindler LE.
    Mol Cell Probes; 2007 Aug; 21(4):245-56. PubMed ID: 17367991
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  • 39. Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.
    Kwon MJ, Yoo KY, Kim HJ, Kim SH.
    Haemophilia; 2008 Sep; 14(5):1069-75. PubMed ID: 18624698
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  • 40. Rapid detection of epidermal growth factor receptor mutations in lung cancer by the SMart-Amplification Process.
    Hoshi K, Takakura H, Mitani Y, Tatsumi K, Momiyama N, Ichikawa Y, Togo S, Miyagi T, Kawai Y, Kogo Y, Kikuchi T, Kato C, Arakawa T, Uno S, Cizdziel PE, Lezhava A, Ogawa N, Hayashizaki Y, Shimada H.
    Clin Cancer Res; 2007 Sep 01; 13(17):4974-83. PubMed ID: 17785547
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