Search Results - CANKI-KLAIN, N

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  1. 1
    Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

    Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes by Piluso, G, Politano, L, Aurino, S, Fanin, M, Ricci, E, Ventriglia, V M, Belsito, A, Totaro, A, Saccone, V, Topaloglu, H, Nascimbeni, A C, Fulizio, L, Broccolini, A, Canki-Klain, N, Comi, L I, Nigro, G, Angelini, C, Nigro, V

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  2. 2
    EM.P.3.01 The adult phenotype of congenital muscular dystrophy (MDC1A) due to mutation of LAMA2

    EM.P.3.01 The adult phenotype of congenital muscular dystrophy (MDC1A) due to mutation of LAMA2 by Canki-Klain, N, Béroud, C, Clarke, N.F, Kovac, I, Chambert, S, Guicheney, P

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  3. 3
    G.P.14.06 LGMD2H patients of non Hutterite origin with mutations in TRIM32 gene

    G.P.14.06 LGMD2H patients of non Hutterite origin with mutations in TRIM32 gene by Saccone, V, Scutifero, M, Palladino, A, Di Gregorio, M.G, Ventriglia, V.M, Piluso, G, Canki-Klain, N, Nigro, V, Politano, L

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  4. 4
    G.P.8.03 Clinical, genetic and epidemiological study of prevalent autosomal recessive limb girdle muscular dystrophies in Croatia

    G.P.8.03 Clinical, genetic and epidemiological study of prevalent autosomal recessive limb girdle muscular dystrophies in Croatia by Canki-Klain, N, Zagar, M, Alfirevic-Ungarov, T, Miliæ, A, Malnar, M, Mitroviæ, Z, Vranješ, D, Kovaè, B, Cvitanovic-Sojat, L

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  5. 5
    Juvenile Huntington disease presenting as progressive speech impairement

    Juvenile Huntington disease presenting as progressive speech impairement by Canki-Klain, N.

    Published in Revue neurologique
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  6. 6
    Clinical, genetic and epidemiological study of major autosomal recessive limb girdle muscular dystrophy (lgmd2) in croatia

    Clinical, genetic and epidemiological study of major autosomal recessive limb girdle muscular dystrophy (lgmd2) in croatia by Canki-Klain, N.

    Published in Revue neurologique
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  7. 7
    Epidemiology and genetics of calpainopathy in Croatia

    Epidemiology and genetics of calpainopathy in Croatia by Canki-Klain, N.

    Published in Revue neurologique
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  8. 8
    Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

    Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia by Canki-Klain, Nina, Milic, Astrid, Kovac, Biserka, Trlaja, Anuska, Grgicevic, Damir, Zurak, Niko, Fardeau, Michel, Leturcq, France, Kaplan, Jean-Claude, Urtizberea, J. Andoni, Politano, Luisa, Piluso, Giulio, Feingold, Josue

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  9. 9
    A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations

    A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations by Mercier, B, Lissens, W, Novelli, G, Kalaydjieva, L, de Arce, M, Kapranov, N, Canki Klain, N, Estivill, X, Palacio, A, Cashman, S

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  10. 10
    Identification of three novel mutations (457 TAT→G, D192G, Q685X) in the Slovenian CF patients

    Identification of three novel mutations (457 TAT→G, D192G, Q685X) in the Slovenian CF patients by AUDREZET, M.-P, CANKI-KLAIN, N, MERCIER, B, BRACAR, D, VERLINGUE, C, FEREC, C

    Published in Human genetics
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