Effect of causative genetic variants on atherosclerotic cardiovascular disease in heterozygous familial hypercholesterolemia patients 著者: Anthony Matta, Anthony Matta, Anthony Matta, Jean Pierre Rabès, Jean Pierre Rabès, Dorota Taraszkiewicz, Didier Carrié, Jérôme Roncalli, Jean Ferrières, Jean Ferrières

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Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia 著者: Mathilde Di Filippo, Hervé Créhalet, Marie Elisabeth Samson-Bouma, Véronique Bonnet, Lawrence P. Aggerbeck, Jean-Pierre Rabès, Frederic Gottrand, Gérald Luc, Dominique Bozon, Agnès Sassolas

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Identification of a Variant in <i>APOB</i> Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families 著者: Carine Ayoub, Yara Azar, Yara Abou-Khalil, Youmna Ghaleb, Sandy Elbitar, Georges Halaby, Selim Jambart, Marie-Hélène Gannagé-Yared, Cesar Yaghi, Carole Saade Riachy, Ralph El Khoury, Jean-Pierre Rabès, Mathilde Varret, Catherine Boileau, Petra El Khoury, Marianne Abifadel

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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia 著者: Youmna Ghaleb, Sandy Elbitar, Anne Philippi, Petra El Khoury, Yara Azar, Miangaly Andrianirina, Alexia Loste, Yara Abou-Khalil, Gaël Nicolas, Marie Le Borgne, Philippe Moulin, Mathilde Di-Filippo, Sybil Charrière, Michel Farnier, Cécile Yelnick, Valérie Carreau, Jean Ferrières, Jean-Michel Lecerf, Alexa Derksen, Geneviève Bernard, Marie-Soleil Gauthier, Benoit Coulombe, Dieter Lütjohann, Bertrand Fin, Anne Boland, Robert Olaso, Jean-François Deleuze, Jean-Pierre Rabès, Catherine Boileau, Marianne Abifadel, Mathilde Varret

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Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia 著者: Jean Ferrières, Michel Farnier, Eric Bruckert, Alexandre Vimont, Vincent Durlach, Emile Ferrari, Antonio Gallo, Franck Boccara, Dorota Ferrières, Sophie Béliard, Denis Angoulvant, Karine Aouchiche, Sophie Beliard, Franck Boccara, Eric Bruckert, Bertrand Cariou, Valérie Carreau, Alain Carrie, Sybil Charrieres, Yves Cottin, Mathilde Di Filippo, Caroline Dourmap, Pierre-Henri Ducluzeau, Vincent Durlach, Michel Farnier, Emile Ferrari, Dorota Ferrieres, Jean Ferrieres, Antonio Gallo, Regis Hankard, Jocelyn Inamo, Olga Kalmykova, Michel Krempf, Julie Lemale, Philippe Moulin, François Paillard, Noel Peretti, Agnes Perrin, Alain Pradignac, Yann Pucheu, Jean Pierre Rabes, Rachel Reynaud, Vincent Rigalleau, François Schiele, Ariane Sultan, Patrick Tounian, René Valero, Bruno Verges, Cecile Yelnik, Olivier Ziegler

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