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Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
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Título
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Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
por
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
Publicado 2013
Journal article
2
Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
por
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
Publicado 2013
Journal article
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Institución
University of Oxford
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Formato
Journal article
2 results
2
Autor
Ardissino, D
2 results
2
Auer, P
2 results
2
Barnes, T
2 results
2
Duga, S
2 results
2
Farrall, M
2 results
2
Fouchier, S
2 results
2
Gigante, B
2 results
2
Girelli, D
2 results
2
Goel, A
2 results
2
Jackson, R
2 results
2
Kooperberg, C
2 results
2
Lange, L
2 results
2
Martinelli, N
2 results
2
McPherson, R
2 results
2
Melander, O
2 results
2
Moscoso, A
2 results
2
Nikpay, M
2 results
2
Orho-Melander, M
2 results
2
Peloso, G
2 results
2
Rader, D
2 results
2
Reilly, M
2 results
2
Sivapalaratnam, S
2 results
2
Sjouke, B
2 results
2
Stitziel, N
2 results
2
Watkins, H
2 results
2
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Idioma
English
2 results
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