Search Results - Stephan Rust

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  1. 1
    Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection

    Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection by Stephan Rust, Harald Funke, Gerd Assmann

    Published 1993
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  2. 2
    Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

    Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening by Janine Reunert, Manfred Fobker, Frank Kannenberg, Ingrid Du Chesne, Maria Plate, Judith Wellhausen, Stephan Rust, Thorsten Marquardt

    Published 2015
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  3. 3
    Prevalence of Cholesteryl Ester Storage Disease

    Prevalence of Cholesteryl Ester Storage Disease by Sandro Muntoni, Heiko Wiebusch, Marianne Jansen-Rust, Stephan Rust, Udo Seedorf, H. Schulte, Klaus Berger, Harald Funke, Gerd Assmann

    Published 2007
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  4. 4
    SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

    SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy by Julien H. Park, Max Hogrebe, Manfred Fobker, Renate Brackmann, Barbara Fiedler, Janine Reunert, Stephan Rust, Konstantinos Tsiakas, René Santer, Marianne Grüneberg, Thorsten Marquardt

    Published 2017
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  5. 5
    Polyunsaturated Fatty Acids and Acetoacetate Downregulate the Expression of the ATP-Binding Cassette Transporter A1

    Polyunsaturated Fatty Acids and Acetoacetate Downregulate the Expression of the ATP-Binding Cassette Transporter A1 by Yoshinari Uehara, Thomas Engel, Zhengchen Li, Christian Goepfert, Stephan Rust, Xiaoqin Zhou, Claus Langer, Christian Schachtrup, Johannes Wiekowski, Stefan Lorkowski, Gerd Assmann, Arnold von Eckardstein

    Published 2002
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  6. 6
    A Mutation in the G-Protein Gene <i>GNB2</i> Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction

    A Mutation in the G-Protein Gene <i>GNB2</i> Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction by Birgit Stallmeyer, Johanna Kuß, S. Kotthoff, Sven Zumhagen, Kirsty Vowinkel, Susanne Rinné, Lina A. Matschke, Corinna Friedrich, Ellen Schulze-Bahr, Stephan Rust, Guiscard Seebohm, Niels Decher, Eric Schulze‐Bahr

    Published 2017
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  7. 7
    SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

    SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis by Julien H. Park, Christiane Elpers, Janine Reunert, Michael L. McCormick, Julia Mohr, Saskia Biskup, Oliver Schwartz, Stephan Rust, Marianne Grüneberg, Anja Seelhöfer, Ulrike Schara, Eugen Boltshauser, Douglas R. Spitz, Thorsten Marquardt

    Published 2019
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  8. 8
    Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p

    Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p by Helen M. Broadbent, John F. Peden, Stefan Lorkowski, Anuj Goel, Halit Ongen, Fiona Green, Robert Clarke, Rory Collins, Maria Grazia Franzosi, Gianni Tognoni, Udo Seedorf, Stephan Rust, Per Eriksson, Anders Hamsten, Martin Farrall, Hugh Watkins

    Published 2007
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  9. 9
    Serotonin transporter gene methylation is associated with hippocampal gray matter volume

    Serotonin transporter gene methylation is associated with hippocampal gray matter volume by Udo Dannlowski, Harald Kugel, Ronny Redlich, Adriane Halik, Ilona Schneider, Nils Opel, Dominik Grotegerd, Kathrin Schwarte, Christiane Schettler, Oliver Ambrée, Stephan Rust, Katharina Domschke, Volker Arolt, Walter Heindel, Bernhard T. Baune, Thomas Suslow, Weiqi Zhang, Christa Hohoff

    Published 2014
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  10. 10
    Genome-Wide Mapping of Susceptibility to Coronary Artery Disease Identifies a Novel Replicated Locus on Chromosome 17

    Genome-Wide Mapping of Susceptibility to Coronary Artery Disease Identifies a Novel Replicated Locus on Chromosome 17 by Martin Farrall, Fiona R. Green, John F. Peden, Per Olsson, Robert Clarke, Mai‐Lis Hellénius, Stephan Rust, Jacob Lagercrantz, Maria Grazia Franzosi, H. Schulte, Alisoun H. Carey, Gunnar Olsson, Gerd Assmann, Gianni Tognoni, Rory Collins, Anders Hamsten, Hugh Watkins

    Published 2006
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  11. 11
    CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

    CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia by Francisco J. Arjona, Jeroen H. F. de Baaij, Karl P. Schlingmann, Anke L. Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, Georg Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J.M. Bindels, Joost G.J. Hoenderop

    Published 2014
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  12. 12
    Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred

    Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred by Alan T. Remaley, Stephan Rust, Marie Rosier, Cathy Knapper, Laurent Naudin, Cyril Broccardo, Katherine Peterson, Christine Koch, Isabelle Arnould, Catherine Prades, Nicholas Duverger, Harald Funke, Gerd Assman, Maria Dinger, Michael Dean, Giovanna Chimini, Silvia Santamarina-Fojo, Donald S. Fredrickson, Patrice Denèfle, H. Bryan Brewer

    Published 1999
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  13. 13
    Association of Serotonin Transporter Gene AluJb Methylation with Major Depression, Amygdala Responsiveness, 5-HTTLPR/rs25531 Polymorphism, and Stress

    Association of Serotonin Transporter Gene AluJb Methylation with Major Depression, Amygdala Responsiveness, 5-HTTLPR/rs25531 Polymorphism, and Stress by Ilona Schneider, Harald Kugel, Ronny Redlich, Dominik Grotegerd, Christian Bürger, Paul‐Christian Bürkner, Nils Opel, Katharina Dohm, Dario Zaremba, Susanne Meinert, Nina Schröder, Anna Milena Straßburg, Kathrin Schwarte, Christiane Schettler, Oliver Ambrée, Stephan Rust, Katharina Domschke, Volker Arolt, Walter Heindel, Bernhard T. Baune, Weiqi Zhang, Udo Dannlowski, Christa Hohoff

    Published 2017
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  14. 14
    Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease

    Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease by Robert Clarke, John F. Peden, Jemma C. Hopewell, Theodosios Kyriakou, Anuj Goel, Simon Heath, Sarah Parish, Simona Barlera, Maria Grazia Franzosi, Stephan Rust, Derrick Bennett, Angela Silveira, Anders Mälarstig, Fiona R. Green, Mark Lathrop, Bruna Gigante, Karin Leander, Ulf dé Fairé, Udo Seedorf, Anders Hamsten, Rory Collins, Hugh Watkins, Martin Farrall

    Published 2009
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  15. 15
    SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

    SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation by Julien H. Park, Max Hogrebe, Marianne Grüneberg, Ingrid DuChesne, Ava L. von der Heiden, Janine Reunert, Karl P. Schlingmann, Kym M. Boycott, Chandree L. Beaulieu, Aziz Mhanni, A. Micheil Innes, Konstanze Hörtnagel, Saskia Biskup, Eva M. Gleixner, Gerhard Kurlemann, Barbara Fiedler, Heymut Omran, Frank Rutsch, Yoshinao Wada, Konstantinos Tsiakas, René Santer, Daniel W. Nebert, Stephan Rust, Thorsten Marquardt

    Published 2015
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  16. 16
    Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

    Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia by Karl P. Schlingmann, Justyna Ruminska, Martin Kaufmann, İsmail Dursun, Monica Patti, Birgitta Kranz, Ewa Pronicka, Elżbieta Ciara, Teoman Akçay, Derya Buluş, Marlies Cornelissen, Aneta Gawlik, Przemysław Sikora, Ludwig Patzer, Matthias Galiano, Veselin Boyadzhiev, Miroslav Dumić, Asaf Vivante, Robert Kleta, Benjamin Dekel, Elena Levtchenko, René J.M. Bindels, Stephan Rust, Ian C. Forster, Nati Hernando, Glenville Jones, Carsten A. Wagner, Martin Konrad

    Published 2015
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  17. 17
    CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

    CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation by Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel, Sharita Timal, Janine Reunert, Stephan Rust, Belén Pérez, Dorothée Vicogne, Peter Krawitz, Yoshinao Wada, Angel Ashikov, Celia Pérez‐Cerdá, Celia Medrano, Andrea Arnoldy, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Dulce Quelhas, Luísa Diogo, Daisy Rymen, Jaak Jaeken, Nathalie Guffon, David Cheillan, Lambertus P. van den Heuvel, Yusuke Maeda, Olaf Kaiser, Ulrike Schara, Patrick Gerner, Marjolein A.W. van den Boogert, Adriaan G. Holleboom, Marie‐Cécile Nassogne, Étienne Sokal, Jody Salomon, Geert van den Bogaart, Joost P.H. Drenth, Martijn A. Huynen, Joris A. Veltman, Ron A. Wevers, Éva Morava, Gert Matthijs, François Foulquier, Thorsten Marquardt, Dirk J. Lefeber

    Published 2016
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  18. 18
    Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

    Multiple Phenotypes in Phosphoglucomutase 1 Deficiency by Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, Bobby G. Ng, Marie‐Estelle Losfeld, Sharita Timal, Kimiyo Raymond, Ping He, Mie Ichikawa, Joris A. Veltman, Karin Huijben, Yoon S. Shin, Vandana Sharma, Maciej Adamowicz, Martin Lammens, Janine Reunert, Anika Witten, Esther Schrapers, Gert Matthijs, Jaak Jaeken, Daisy Rymen, Tanya Stojkovic, Pascal Laforêt, François Petit, O. Aumaître, E. Czarnowska, Monique Piraud, Teodor Podskarbi, Charles A. Stanley, Reuben Matalon, Patricie Burda, Soraya Seyyedi, Volker Debus, Piotr Socha, Jolanta Sykut‐Cegielska, Francjan van Spronsen, Linda De Meırleır, Pietro Vajro, Terry J. DeClue, Can Fıçıcıoğlu, Yoshinao Wada, Ron A. Wevers, Dieter Vanderschaeghe, Nico Callewaert, Ralph Fingerhut, Emile Van Schaftingen, Hudson H. Freeze, Éva Morava, Dirk J. Lefeber, Thorsten Marquardt

    Published 2014
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  19. 19
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease by John F. Peden, Jemma C. Hopewell, Danish Saleheen, John C. Chambers, Jörg Hager, Nicole Soranzo, Rory Collins, John Danesh, Paul Elliott, Martin Farrall, Kathy Stirrups, Weihua Zhang, Anders Hamsten, Sarah Parish, Mark Lathrop, Hugh Watkins, Robert Clarke, Panos Deloukas, Jaspal S. Kooner, Anuj Goel, Halit Ongen, Rona J. Strawbridge, Simon Heath, Anders Mälarstig, Anna Helgadóttir, John Öhrvik, Muhammed Murtaza, Simon Potter, Sarah Hunt, Marc Delépine, Shapour Jalilzadeh, Tomas Axelsson, Ann‐Christine Syvänen, Rhian Gwilliam, Suzannah Bumpstead, Emma Gray, Sarah Edkins, Lasse Folkersen, Theodosios Kyriakou, Anders Franco-Cereceda, Anders Gabrielsen, Udo Seedorf, Per Eriksson, Alison Offer, Louise Bowman, Peter Sleight, Jane Armitage, Richard Peto, Gonçalo R. Abecasis, Nabeel Ahmed, Mark J. Caulfield, Peter Donnelly, Philippe Froguel, Angad S. Kooner, Mark I. McCarthy, N. J. Samani, James Scott, Joban Sehmi, Angela Silveira, Mai‐Lis Hellénius, Ferdinand M. van’t Hooft, Gunnar Olsson, Stephan Rust, Gerd Assmann, Simona Barlera, Gianni Tognoni, Maria Grazia Franzosi, Pamela Linksted, Fiona R. Green, Asif Rasheed, Moazzam Zaidi, Nabi Shah, Maria Samuel, Nadeem Hayyat Mallick, Muhammad Azhar, Khan Shah Zaman, Abdus Samad, Mohammad Ishaq, Ali Raza Gardezi, Fazal-ur-Rehman Memon, Philippe M. Frossard, Tim Spector, Leena Peltonen, Markku S. Nieminen, Juha Sinisalo, Veikko Salomaa, Samuli Ripatti, Derrick Bennett, Karin Leander, Bruna Gigante, Ulf dé Fairé, Silvia De Pietri, F. Gori, Roberto Marchioli, Suthesh Sivapalaratnam, John J.P. Kastelein, Mieke D. Trip, Eirini Theodoraki, George Dedoussis, James C. Engert

    Published 2011
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