Výsledky vyhledávání - M. Mahdi Motazacker

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  1. 1
    Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein

    Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein Autor Vincenzo Sorrentino, S. W. Fouchier, M. Mahdi Motazacker, Jessica K. Nelson, Joep C. Defesche, Geesje M. Dallinga‐Thie, J Kastelein, G. Kees Hovingh, Noam Zelcer

    Vydáno 2013
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  2. 2
    High density lipoprotein as a source of cholesterol for adrenal steroidogenesis: a study in individuals with low plasma HDL-C

    High density lipoprotein as a source of cholesterol for adrenal steroidogenesis: a study in individuals with low plasma HDL-C Autor Andrea E. Bochem, Adriaan G. Holleboom, Johannes A. Romijn, Menno Hoekstra, Geesje M. Dallinga‐Thie, M. Mahdi Motazacker, G. Kees Hovingh, Jan Albert Kuivenhoven, Erik S.G. Stroes

    Vydáno 2013
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  3. 3
    ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden

    ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden Autor A.E. Bochem, Diederik F. van Wijk, Adriaan G. Holleboom, Raphaël Duivenvoorden, M. Mahdi Motazacker, Geesje M. Dallinga‐Thie, E. de Groot, John J.P. Kastelein, Aart J. Nederveen, G. Kees Hovingh, E.S.G. Stroes

    Vydáno 2012
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  4. 4
    ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

    ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions Autor Hao Hu, Katinka Eggers, Wei Chen, Masoud Garshasbi, M. Mahdi Motazacker, Klaus Wrogemann, Kimia Kahrizi, Andreas Tzschach, Masoumeh Hosseini, Ideh Bahman, Tim Hucho, Martina Mühlenhoff, Rita Gerardy‐Schahn, Hossein Najmabadi, Hans‐Hilger Ropers, Andreas W. Kuß

    Vydáno 2011
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  5. 5
    Zeolite Nanoparticles for Selective Sorption of Plasma Proteins

    Zeolite Nanoparticles for Selective Sorption of Plasma Proteins Autor Mahmood Reza Rahimi, Eng‐Poh Ng, Kamran Bakhtiari, Manlio Vinciguerra, Haçan Ali Ahmad, Hussein Awala, Svetlana Mintova, Seyed Mojtaba Daghighi, Fatemeh Bakhshandeh Rostami, Marcel de Vries, M. Mahdi Motazacker, Maikel P. Peppelenbosch, Morteza Mahmoudi, Farhad Rezaee

    Vydáno 2015
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  6. 6
    Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

    Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation Autor Asif Mir, Liana Kaufman, Abdul Noor, M. Mahdi Motazacker, Talal Jamil, Matloob Azam, Kimia Kahrizi, Muhammad Rafiq, Rosanna Weksberg, Tanveer Nasr, Farooq Naeem, Andreas Tzschach, Andreas W. Kuß, Gisele E. Ishak, Dan Doherty, Hans‐Hilger Ropers, A. James Barkovich, Hossein Najmabadi, Muhammad Ayub, John B. Vincent

    Vydáno 2009
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  7. 7
    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Autor Médéric Jeanne, Hélène Demory, Aubin Moutal, Marie‐Laure Vuillaume, Sophie Blesson, Rose‐Anne Thépault, Sylviane Marouillat, Judith Halewa, Saskia M. Maas, M. Mahdi Motazacker, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Avgi Andreou, Helene Cox, Julie A. Vogt, Jason Laufman, Natella Kostandyan, Davit Babikyan, Miroslava Hančárová, Šárka Bendová, Zdeněk Sedláček, Kimberly A. Aldinger, Elliott H. Sherr, Emanuela Argilli, Eleina England, Séverine Audebert‐Bellanger, Dominique Bonneau, Estelle Colin, Anne‐Sophie Denommé‐Pichon, Brigitte Gilbert‐Dussardier, Bertrand Isidor, Sébastien Küry, Sylvie Odent, Richard Redon, Rajesh Khanna, William B. Dobyns, Stéphane Bézieau, Jérôme Honnorat, Bernhard Lohkamp, Annick Toutain, Frédéric Laumonnier

    Vydáno 2021
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  8. 8
    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing

    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing Autor Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Reneé C. Lin, Jevin Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Currò, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, Yi He, Kristina Zhelchenska, Yohanns Bellaı̈che, Isabelle Gaugué, Mariola Skorupinska, Liedewei Van de Vondel, Sahar I. Da’as, Valentina Turchetti, Serdal Güngör, Ehsan Ghayoor Karimiani, Camila Armirola-Ricaurte, Haluk Topaloğlu, Albena Jordanova, Mashaya Zaman, Selina Banu, Wilson Marques, Pedro José Tomaselli, Büşra Aynekin, Ali Cansu, Hüseyin Per, Ayten Güleç, Javeria Raza Alvi, Tipu Sultan, Arif Khan, Giovanni Zifarelli, Shahnaz Ibrahim, Grazia M.S. Mancini, M. Mahdi Motazacker, Esther Brusse, Vincenzo Lupo, Teresa Sevilla, A. Nazlı Başak, Şeyma Tekgül, Robin Palvadeau, Jonathan Baets, Yeşim Parman, Arman Çakar, Rita Horváth, Tobias B. Haack, J. Stahl, Kathrin Grundmann‐Hauser, Joohyun Park, Stephan Züchner, Nigel G. Laing, Lindsay Wilson, Alexander M. Rossor, James M. Polke, Fernanda Barbosa Figueiredo, André Luiz Santos Pessoa, Fernando Kok, Antônio Rodrigues Coimbra Neto, Marcondes C. França, Yalda Jamshidi, Gianina Ravenscroft, Sherifa A. Hamed, Wendy K. Chung, Daniel P. S. Osborn, Michael G. Hanna, Andrea Cortese, Mary M. Reilly, James E.C. Jepson, Nathalie Lamarche‐Vane, Henry Houlden

    Vydáno 2024
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  9. 9
    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications Autor Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Patrick May, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Štěrbová, Petra Laššuthová, Markéta Vlčková, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M. Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Engel Hoei‐Hansen, Pasquale Striano, Federico Zara, Hélène Verhelst, J. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva H. Brilstra, Manuela Pendziwiat, Sebastian Lebon, María Vaccarezza, Ngọc Minh Lê, Jakob Christensen, Sabine Grønborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard J. Leventer, Chloe Stutterd, Sonja Walsh, Marion Gérard, Bénédicte Gérard, Sara Matricardi, Claudia Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman‐Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cécilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frédéric Bilan, Daniel Tibussek, Margarete Koch‐Hogrebe, Μ. Scott Perry, Shoji Ichikawa, Е. Л. Дадали, Artem Sharkov, Irina Mishina, M. O. Abramov, Ilya Kanivets, С. А. Коростелев, Sergey I. Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Müller‐Schlüter, Haim Bassan, Artem Borovikov, Marie‐Cécile Nassogne

    Vydáno 2021
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  10. 10
    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Autor Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea Petersen, Luis A. Pérez‐Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hančárová, Šárka Bendová, Martin Schwarz, Radka Kremlíková Pourová, Zdeněk Sedláček, Beth Keena, Michael March, Cuiping Hou, Nora O’Connor, Elizabeth Bhoj, Margaret Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, Mark A. Tarnopolsky, Lauren Brady, Michael Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina H. Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tuğçe B. Balcı, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, C. Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, M. Mahdi Motazacker, Julián A. Martínez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni‐Ardori, Mary Ellen Palko, Tzung‐Chien Hsieh, Peter Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John M. Greally, Sébastien Jacquemont, Khadijé Jizi, Ange‐Line Bruel, Chloé Quēlin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Hurst, Michelle L. Thompson, Ryan Schmidt, Linda M. Randolph, Rebecca C. Spillmann, Vandana Shashi

    Vydáno 2023
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