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  • Veršuvnnat - Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
Čájehuvvo 1 - 2 / 2, ohcanáigi: 0,19s Aiddostahte ozu
  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. Dahkki 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

    Almmustuhtton 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 Dahkki 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

    Almmustuhtton 2013
    Journal article

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  • University of Oxford 2 bohtosa 2

  • Journal article 2 bohtosa 2

  • Ardissino, D 2 bohtosa 2
  • Auer, P 2 bohtosa 2
  • Barnes, T 2 bohtosa 2
  • Duga, S 2 bohtosa 2
  • Farrall, M 2 bohtosa 2
  • Fouchier, S 2 bohtosa 2
  • Gigante, B 2 bohtosa 2
  • Girelli, D 2 bohtosa 2
  • Goel, A 2 bohtosa 2
  • Jackson, R 2 bohtosa 2
  • Kooperberg, C 2 bohtosa 2
  • Lange, L 2 bohtosa 2
  • Martinelli, N 2 bohtosa 2
  • McPherson, R 2 bohtosa 2
  • Melander, O 2 bohtosa 2
  • Moscoso, A 2 bohtosa 2
  • Nikpay, M 2 bohtosa 2
  • Orho-Melander, M 2 bohtosa 2
  • Peloso, G 2 bohtosa 2
  • Rader, D 2 bohtosa 2
  • Reilly, M 2 bohtosa 2
  • Sivapalaratnam, S 2 bohtosa 2
  • Sjouke, B 2 bohtosa 2
  • Stitziel, N 2 bohtosa 2
  • Watkins, H 2 bohtosa 2
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