Search Results - Mohammad Mahdi Motazacker

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  1. 1
    Evidence of a Polygenic Origin of Extreme High-Density Lipoprotein Cholesterol Levels

    Evidence of a Polygenic Origin of Extreme High-Density Lipoprotein Cholesterol Levels by Mohammad Mahdi Motazacker, Jorge Peter, M. Treskes, Carol C. Shoulders, Jan Albert Kuivenhoven, G. Kees Hovingh

    Published 2013
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  2. 2
    Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism

    Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism by Ratna Karuna, Adriaan G. Holleboom, Mohammad Mahdi Motazacker, Jan Albert Kuivenhoven, Ruth Frikke‐Schmidt, Anne Tybjærg‐Hansen, Spiros Georgopoulos, Miranda Van Eck, Theo J.C. van Berkel, Arnold von Eckardstein, Katharina Rentsch

    Published 2010
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  3. 3
    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 by 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

    Published 2012
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  4. 4
    A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

    A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation by Mohammad Mahdi Motazacker, Benjamin R. Rost, Tim Hucho, Masoud Garshasbi, Kimia Kahrizi, Reinhard Ullmann, Seyedeh Sedigheh Abedini, Sahar Esmaeeli Nieh, Saeid Hosseini Amini, Chandan Goswami, Andreas Tzschach, Lars Riff Jensen, Dietmar Schmitz, Hans Hilger Ropers, Hossein Najmabadi, Andreas W. Kuß

    Published 2007
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  5. 5
    Genetic Variant of the Scavenger Receptor BI in Humans

    Genetic Variant of the Scavenger Receptor BI in Humans by Menno Vergeer, Suzanne J.A. Korporaal, Remco Franssen, Illiana Meurs, Ruud Out, G. Kees Hovingh, Menno Hoekstra, Jeroen A. Sierts, Geesje M. Dallinga‐Thie, Mohammad Mahdi Motazacker, Adriaan G. Holleboom, Theo J.C. van Berkel, John J.P. Kastelein, Miranda Van Eck, Jan Albert Kuivenhoven

    Published 2011
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  6. 6
    Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

    Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability by Lia Abbasi‐Moheb, Sara Mertel, Melanie Gonsior, Leyla Nouri-Vahid, Kimia Kahrizi, Sebahattin Çirak, Dagmar Wieczorek, Mohammad Mahdi Motazacker, Sahar Esmaeeli-Nieh, Kirsten Cremer, Robert Weißmann, Andreas Tzschach, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Hossein Najmabadi, Hans‐Hilger Ropers, Stephan J. Sigrist, Andreas W. Kuß

    Published 2012
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  7. 7
    Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man

    Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man by Adriaan G. Holleboom, Helén Karlsson, Ruei-Shiuan Lin, Thomas M. Beres, Jeroen A. Sierts, Daniel S. Herman, Erik S.G. Stroes, Johannes M. F. G. Aerts, John J.P. Kastelein, Mohammad Mahdi Motazacker, Geesje M. Dallinga‐Thie, Johannes H.M. Levels, Aeilko H. Zwinderman, Jonathan G. Seidman, Christine E. Seidman, Stefan Ljunggren, Dirk J. Lefeber, Éva Morava, Ron A. Wevers, Timothy A. Fritz, Lawrence A. Tabak, Mats Lindahl, G. Kees Hovingh, Jan Albert Kuivenhoven

    Published 2011
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  8. 8
    Exome Sequencing in Suspected Monogenic Dyslipidemias

    Exome Sequencing in Suspected Monogenic Dyslipidemias by 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

    Published 2015
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  9. 9
    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders by Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcová, Stéphanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Bürglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Rosa Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Guéden, Omer Bar‐Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago‐Sim, Richard Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong‐Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Mahdi Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz‐Rogers, Eric W. Klee, David A. Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier González‐Peñas, Ángel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Michael G. Hanna, Enrico Bugiardini, Isabel C. Hostettler, Benjamin O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’Connor, Wai Y. Yau, Thomas Bourinaris, Rauan Kaiyrzhanov, Viorica Chelban, M Madej, Maria C. Diana, Maria S. Vari, Marina Pedemonte, Claudio Bruno, Ganna Balagura, Marcello Scala, Chiara Fiorillo, Lino Nobili, Nancy T. Malintan, M. Natalia Zanetti, Shyam S. Krishnakumar, Gabriele Lignani, James E.C. Jepson, Paolo Broda, Sımona Baldassari, Pia Rossi, Floriana Fruscione, Francesca Madia

    Published 2019
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