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Journal Abstract Search

86 related items for PubMed ID: 18593871

  • 1. Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.
    Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N.
    J Med Genet; 2008 Jul; 45(7):479-80. PubMed ID: 18593871
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  • 3. COH1 analysis and linkage study in two Japanese families with Cohen syndrome.
    Kondo I, Shimizu A, Asakawa S, Miyamoto K, Yamagata H, Tabara Y, Shimizu N.
    Clin Genet; 2005 Mar; 67(3):270-2. PubMed ID: 15691367
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  • 4. DNA mutation analysis in heterotaxy.
    Ware SM.
    Methods Mol Med; 2006 Mar; 126():247-56. PubMed ID: 16930017
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  • 12. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
    de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J.
    Hum Mutat; 2009 Apr; 30(4):669-76. PubMed ID: 19235238
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  • 13. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
    Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P.
    Hum Mutat; 2009 May; 30(5):E673-81. PubMed ID: 19309693
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  • 18. First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
    Bedoyan JK, Friez MJ, DuPont B, Ahmad A.
    Eur J Med Genet; 2009 May; 52(4):262-4. PubMed ID: 19110080
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  • 20. Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.
    Naguib KK, Gouda SA, Elshafey A, Mohammed F, Bastaki L, Azab AS, Alawadi SA.
    East Mediterr Health J; 2009 May; 15(2):345-52. PubMed ID: 19554981
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