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  1. 1
    Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

    Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. di Stitziel, N, Fouchier, S, Sjouke, B, Peloso, G, Moscoso, A, Auer, P, Goel, A, Gigante, B, Barnes, T, Melander, O, Orho-Melander, M, Duga, S, Sivapalaratnam, S, Nikpay, M, Martinelli, N, Girelli, D, Jackson, R, Kooperberg, C, Lange, L, Ardissino, D, McPherson, R, Farrall, M, Watkins, H, Reilly, M, Rader, D

    Pubblicazione 2013
    Journal article
  2. 2
    Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

    Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia di Stitziel, N, Fouchier, S, Sjouke, B, Peloso, G, Moscoso, A, Auer, P, Goel, A, Gigante, B, Barnes, T, Melander, O, Orho-Melander, M, Duga, S, Sivapalaratnam, S, Nikpay, M, Martinelli, N, Girelli, D, Jackson, R, Kooperberg, C, Lange, L, Ardissino, D, McPherson, R, Farrall, M, Watkins, H, Reilly, M, Rader, D

    Pubblicazione 2013
    Journal article

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