Search Results - Lehesjoki, A.E.

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  1. 1
    SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure

    SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure by Dibbens, L.M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M.A., Joensuu, T., Vears, D.F., Franceschetti, S., Canafoglia, L., Wallace, R., Bassuk, A.G., Power, D.A., Tassinari, C.A., Andermann, E., Lehesjoki, A.E., Berkovic, S.F.

    Published in Annals of neurology
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  2. 2
    Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype

    Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype by Horvers, M, Anttonen, A.K, Lehesjoki, A.E, Morava, E, Wortmann, S, Vermeer, S, van de Warrenburg, B.P, Willemsen, M.A

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  3. 3
    Heterozygous LRP5 mutations in children with fractures

    Heterozygous LRP5 mutations in children with fractures by Saarinen, A, Mäyränpää, M.K, Lehesjoki, A.E, Mäkitie, O

    Published in BONE
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  4. 4
    Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy

    Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy by Savander, M, Ropponen, A, Avela, K, Weerasekera, N, Cormand, B, Hirvioja, M-L, Riikonen, S, Ylikorkala, O, Lehesjoki, A-E, Williamson, C, Aittomäki, K

    Published in Gut
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  5. 5
    BAP1 germline mutations in uveal melanoma patients without family history of eye cancer

    BAP1 germline mutations in uveal melanoma patients without family history of eye cancer by Turunen, J., Markkinen, S., Wilska, R., Raivio, V., Täll, M., Lehesjoki, A.E., Kivelä, T.

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  6. 6
    Identical genetic locus for Baltic and Mediterranean myoclonus

    Identical genetic locus for Baltic and Mediterranean myoclonus by Malafosse, A, Labauge, P, Lehesjoki, A.E, de la Chapelle, A, Genton, P, Dravet, Ch, Durand, G, Tassinari, C.A, Michelucci, R

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