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PUBMED FOR HANDHELDS

Journal Abstract Search


276 related items for PubMed ID: 28157257

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  • 10. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
    van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H.
    Hum Mutat; 2006 May; 27(5):453-9. PubMed ID: 16575835
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  • 12. 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
    Czeschik JC, Hehr U, Hartmann B, Lüdecke HJ, Rosenbaum T, Schweiger B, Wieczorek D.
    Eur J Med Genet; 2013 Dec; 56(12):689-94. PubMed ID: 24120487
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  • 13. Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
    Yang H, Manya H, Kobayashi K, Jiao H, Fu X, Xiao J, Li X, Wang J, Jiang Y, Toda T, Endo T, Wu X, Xiong H.
    J Hum Genet; 2016 Aug; 61(8):753-9. PubMed ID: 27193224
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  • 19. [Recent Advances in α-dystroglycanopathy].
    Kuga A, Kanagawa M, Toda T.
    Brain Nerve; 2011 Nov; 63(11):1189-95. PubMed ID: 22068471
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