Kết quả tìm kiếm - Sigrid W. Fouchier
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Update of the molecular basis of familial hypercholesterolemia in The Netherlands Bằng Sigrid W. Fouchier, John J.P. Kastelein, Joep C. Defesche
Được phát hành 2005Artigo -
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Molecular Basis of Autosomal Dominant Hypercholesterolemia Bằng 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
Được phát hành 2011Artigo -
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Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia Bằng 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
Được phát hành 2012Artigo -
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Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome Bằng 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
Được phát hành 2014Artigo -
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Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia Bằng 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
Được phát hành 2013Revisão -
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Characterization of Autosomal Dominant Hypercholesterolemia Caused by <i>PCSK9</i> Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibod... Bằng 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
Được phát hành 2015Artigo -
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Exome Sequencing in Suspected Monogenic Dyslipidemias Bằng 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
Được phát hành 2015Artigo -
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Biological, clinical and population relevance of 95 loci for blood lipids Bằng 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
Được phát hành 2010Revisão
Công cụ tìm kiếm:
Các môn học liên quan
Medicine
Internal medicine
Cholesterol
Endocrinology
Biology
Familial hypercholesterolemia
Gene
Genetics
Lipoprotein
Apolipoprotein B
LDL receptor
PCSK9
Mutation
Disease
Environmental health
Exome
Exome sequencing
Kexin
Population
Gastroenterology
Proprotein convertase
Compound heterozygosity
Genotype
Phenotype
Alirocumab
Allele
Alternative medicine
Apolipoprotein A1
Arterial stiffness
Bioinformatics