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Journal Abstract Search

119 related items for PubMed ID: 27192893

  • 1. PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.
    Patiroglu T, Akar HH, Unal E, Chiang SC, Schlums H, Tesi B, Ozkars MY, Karakukcu M.
    Genet Couns; 2016; 27(1):67-76. PubMed ID: 27192893
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  • 10. A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
    Grandin V, Sepulveda FE, Lambert N, Al Zahrani M, Al Idrissi E, Al-Mousa H, Almanjomi F, Al-Ghonaium A, K Habazi M, A Alghamdi H, Picard C, Bole-Feysot C, Nitschke P, Ménasché G, de Saint Basile G.
    Hum Mutat; 2017 Oct; 38(10):1355-1359. PubMed ID: 28585352
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  • 11. Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
    Wei AH, Yang XM, Lian S, Li W.
    Chin Med J (Engl); 2013 Jan; 126(2):226-30. PubMed ID: 23324268
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  • 12. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
    Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1058-64. PubMed ID: 19060277
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  • 13. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
    Wei AH, Zang DJ, Zhang Z, Liu XZ, He X, Yang L, Wang Y, Zhou ZY, Zhang MR, Dai LL, Yang XM, Li W.
    J Invest Dermatol; 2013 Jul; 133(7):1834-40. PubMed ID: 23364476
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  • 14. Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
    Kotzot D, Richter K, Gierth-Fiebig K.
    Am J Med Genet; 1994 Apr 15; 50(3):224-7. PubMed ID: 8042664
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  • 15. Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly.
    Rajadhyax M, Neti G, Crow Y, Tyagi A.
    Brain Dev; 2007 May 15; 29(4):247-50. PubMed ID: 17085000
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  • 17. The molecular genetics of albinism and piebaldism.
    Tomita Y.
    Arch Dermatol; 1994 Mar 15; 130(3):355-8. PubMed ID: 8129415
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  • 19. A novel RAB27A mutation in a patient with Griscelli syndrome type 2.
    Shamsian BS, Norbakhsh K, Rezaei N, Safari A, Gharib A, Pourpak Z, Alavi S, Parvaneh N, Arzanian MT.
    J Investig Allergol Clin Immunol; 2010 Mar 15; 20(7):612-5. PubMed ID: 21314004
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