Resultats de la cerca - Sigrid W. Fouchier

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  1. 1
    Update of the molecular basis of familial hypercholesterolemia in The Netherlands

    Update of the molecular basis of familial hypercholesterolemia in The Netherlands per Sigrid W. Fouchier, John J.P. Kastelein, Joep C. Defesche

    Publicat 2005
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  2. 2
    Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia

    Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia per Roeland Huijgen, Sigrid W. Fouchier, M. Denoun, Barbara A. Hutten, Maud N. Vissers, Gilles Lambert, John J.P. Kastelein

    Publicat 2012
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  3. 3
    Mutations in <i>STAP1</i> Are Associated With Autosomal Dominant Hypercholesterolemia

    Mutations in <i>STAP1</i> Are Associated With Autosomal Dominant Hypercholesterolemia per Sigrid W. Fouchier, Geesje M. Dallinga‐Thie, Joost C.M. Meijers, Noam Zelcer, John J.P. Kastelein, Joep C. Defesche, G. Kees Hovingh

    Publicat 2014
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  4. 4
    Hepatic and Cardiovascular Consequences of Familial Hypobetalipoproteinemia

    Hepatic and Cardiovascular Consequences of Familial Hypobetalipoproteinemia per Raaj R. Sankatsing, Sigrid W. Fouchier, Stefan de Haan, Barbara A. Hutten, Eric de Groot, John J.P. Kastelein, Erik S.G. Stroes

    Publicat 2005
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  5. 5
    Molecular Basis of Autosomal Dominant Hypercholesterolemia

    Molecular Basis of Autosomal Dominant Hypercholesterolemia per Anouk van der Graaf, Hans J. Avis, D. Meeike Kusters, Maud N. Vissers, Barbara A. Hutten, Joep C. Defesche, Roeland Huijgen, Sigrid W. Fouchier, Frits A. Wijburg, John J.P. Kastelein, Albert Wiegman

    Publicat 2011
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  6. 6
    Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

    Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia per Mohammad Mahdi Motazacker, James P. Pirruccello, Roeland Huijgen, Ron Do, Stacey Gabriel, Jorge Peter, Jan Albert Kuivenhoven, Joep C. Defesche, John J.P. Kastelein, G. Kees Hovingh, Noam Zelcer, Sekar Kathiresan, Sigrid W. Fouchier

    Publicat 2012
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  7. 7
    Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome

    Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome per Barbara Sjouke, D. Meeike Kusters, Iris Kindt, Joost Besseling, Joep C. Defesche, Eric J.G. Sijbrands, Jeanine E. Roeters van Lennep, Anton F. H. Stalenhoef, Albert Wiegman, Jacqueline de Graaf, Sigrid W. Fouchier, John J.P. Kastelein, G. Kees Hovingh

    Publicat 2014
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  8. 8
    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 per Nathan O. Stitziel, Sigrid W. Fouchier, Barbara Sjouke, Gina M. Peloso, Alessa M. Moscoso, Paul L. Auer, Anuj Goel, Bruna Gigante, Timothy Barnes, Olle Melander, Marju Orho‐Melander, Stefano Duga, Suthesh Sivapalaratnam, Majid Nikpay, Nicola Martinelli, Domenico Girelli, Rebecca D. Jackson, Charles Kooperberg, Leslie A. Lange, Diego Ardissino, Ruth McPherson, Martin Farrall, Hugh Watkins, Muredach P. Reilly, Daniel J. Rader, Ulf dé Fairé, Heribert Schunkert, Jeanette Erdmann, Mark M. Iles, Lawrence Charnas, David Altshuler, Stacey Gabriel, John J.P. Kastelein, Joep C. Defesche, Aart J. Nederveen, Sekar Kathiresan, G. Kees Hovingh

    Publicat 2013
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  9. 9
    Characterization of Autosomal Dominant Hypercholesterolemia Caused by <i>PCSK9</i> Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

    Characterization of Autosomal Dominant Hypercholesterolemia Caused by <i>PCSK9</i> Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibod... per Paul N. Hopkins, Joep C. Defesche, Sigrid W. Fouchier, Éric Bruckert, Gérald Luc, Bertrand Cariou, Barbara Sjouke, Trond P. Leren, Mariko Harada‐Shiba, Hiroshi Mabuchi, Jean‐Pierre Rabès, Alain Carrié, Charles van Heyningen, Valérie Carreau, Michel Farnier, Yee Ping Teoh, Mafalda Bourbon, Masa-aki Kawashiri, Atsushi Nohara, Handrean Soran, A. David Marais, Hayato Tada, Marianne Abifadel, Cathérine Boileau, B. Chanu, Shoji Katsuda, Ichiro Kishimoto, Gilles Lambert, Hisashi Makino, Yoshihiro Miyamoto, Matthieu Pichelin, Kunimasa Yagi, Masakazu Yamagishi, Yassine Zaïr, Scott Mellis, George D. Yancopoulos, Neil Stahl, Johanna Mendoza, Yunling Du, Sara Hamon, Michel Krempf, Gary D. Swergold

    Publicat 2015
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  10. 10
    Exome Sequencing in Suspected Monogenic Dyslipidemias

    Exome Sequencing in Suspected Monogenic Dyslipidemias per Nathan O. Stitziel, Gina M. Peloso, Marianne Abifadel, Angelo B. Cefalù, Sigrid W. Fouchier, Mohammad Mahdi Motazacker, Hayato Tada, Daniel B. Larach, Zuhier Awan, Jorge F. Haller, Clive R. Pullinger, Mathilde Varret, Jean‐Pierre Rabès, Davide Noto, Patrizia Tarugi, Masa-aki Kawashiri, Atsushi Nohara, Masakazu Yamagishi, Marjorie Risman, Rahul C. Deo, Isabelle L. Ruel, Jay Shendure, Deborah A. Nickerson, James G. Wilson, Stephen S. Rich, Namrata Gupta, Deborah Farlow, Benjamin M. Neale, Mark Daly, John P. Kane, Mason W. Freeman, Jacques Genest, Daniel J. Rader, Hiroshi Mabuchi, John J.P. Kastelein, G. Kees Hovingh, Maurizio Averna, Stacey Gabriel, Cathérine Boileau, Sekar Kathiresan

    Publicat 2015
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  11. 11
    Biological, clinical and population relevance of 95 loci for blood lipids

    Biological, clinical and population relevance of 95 loci for blood lipids per Tanya M. Teslovich, Yan V. Sun, Albert V. Smith, Andrew C. Edmondson, Ioannis M. Stylianou, Masahiro Koseki, James P. Pirruccello, Samuli Ripatti, Daniel I. Chasman, Cristen J. Willer, Christopher T. Johansen, Sigrid W. Fouchier, Aaron Isaacs, Gina M. Peloso, Maja Barbalić, Sally L. Ricketts, Joshua C. Bis, Yurii S. Aulchenko, Guðmar Þorleifsson, Mary F. Feitosa, John C. Chambers, Marju Orho‐Melander, Olle Melander, Toby Johnson, Xiaohui Li, Xiuqing Guo, Mingyao Li, Yoon Shin Cho, Min Jin Go, Young Jin Kim, Jong‐Young Lee, Taesung Park, Kyunga Kim, Xueling Sim, Rick Twee‐Hee Ong, Damien C. Croteau‐Chonka, Leslie A. Lange, Joshua D. Smith, Kijoung Song, Jing Hua Zhao, Xin Yuan, Jian’an Luan, Claudia Lamina, Andreas Ziegler, Weihua Zhang, Robert Y.L. Zee, Alan F. Wright, Jacqueline C.M. Witteman, James F. Wilson, Gonneke Willemsen, H.‐Erich Wichmann, John B. Whitfield, Dawn Waterworth, Nicholas J. Wareham, Gérard Waeber, Péter Vollenweider, Benjamin F. Voight, Véronique Vitart, André G. Uitterlinden, Manuela Uda, Jaakko Tuomilehto, John R. Thompson, Toshiko Tanaka, Ida Surakka, Heather M. Stringham, Tim D. Spector, Nicole Soranzo, Johannes H. Smit, Juha Sinisalo, Kaisa Silander, Eric J.G. Sijbrands, Angelo Scuteri, Berthold Lausen, David Schlessinger, Serena Sanna, Veikko Salomaa, Juha Saharinen, Chiara Sabatti, Aimo Ruokonen, Igor Rudan, Lynda M. Rose, Robert Roberts, Mark J. Rieder, Bruce M. Psaty, Peter P. Pramstaller, Irene Pichler, Markus Perola, Brenda W.J.H. Penninx, Nancy L. Pedersen, Cristian Pattaro, Alex Parker, Guillaume Paré, Ben A. Oostra, Christopher J. O’Donnell, Markku S. Nieminen, Deborah A. Nickerson, Grant W. Montgomery, Thomas Meitinger, Ruth McPherson, Mark I. McCarthy

    Publicat 2010
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