Výsledky vyhledávání - H.‐J. Christen

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  1. 1
    Lyme Disease

    Lyme Disease Autor Roland Nau, H.‐J. Christen, Helmut Eiffert

    Vydáno 2009
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    Revisão
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  2. 2
    Multiple sclerosis in children: Cerebral metabolic alterations monitored by localized proton magnetic resonance spectroscopy in vivo

    Multiple sclerosis in children: Cerebral metabolic alterations monitored by localized proton magnetic resonance spectroscopy in vivo Autor Harald Bruhn, Jens Frahm, K. D. Merboldt, W. Hänicke DiplMath, F. Hanefeld, H.-J. Christen, B. Kruse, H. Bauer

    Vydáno 1992
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    Artigo
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  3. 3
    SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

    SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency Autor Lars Schlotawa, Eva C. Ennemann, Karthikeyan Radhakrishnan, Bernhard Schmidt, Anupam Chakrapani, H.‐J. Christen, Hugo W. Moser, Beat Steinmann, Thomas Dierks, Jutta Gärtner

    Vydáno 2011
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  4. 4
    Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

    Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study Autor Manju A. Kurian, Yan Li, Juan Zhen, Esther Meyer, Nebula A. Hai, H.‐J. Christen, Georg F. Hoffmann, Philip Jardine, Arpad von Moers, Santosh Mordekar, Finbar O’Callaghan, Evangeline Wassmer, Elizabeth Wraige, Christa Dietrich, Timothy Lewis, Keith Hyland, Simon Heales, Terence D. Sanger, Paul Gissen, Birgit Assmann, Maarten E. A. Reith, Eamonn R. Maher

    Vydáno 2010
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  5. 5
    Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

    Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum Autor Anne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, Ines Müller, Sabine Jyrch, Christof Dame, Heike Biebermann, Gunnar Kleinau, Juri Katchanov, Markus Schuelke, Grit Ebert, Anne Steininger, Carsten G. Bönnemann, Knut Brockmann, H.‐J. Christen, Patricia Crock, Francis deZegher, Matthias Griese, Jacqueline Hewitt, Sten A. Ivarsson, Christoph Hübner, Klaus Kapelari, Barbara Plecko, D. Rating, Iva Stoeva, Hans‐Hilger Ropers, Annette Grüters, Reinhard Ullmann, Heiko Krude

    Vydáno 2014
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  6. 6
    Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

    Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III Autor H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke, Parastoo Momeni, Simon Groß, D. von Holtum, H. Hirche, Marc Abramowicz, Beate Albrecht, Can Apacik, H.‐J. Christen, U. Claussen, Koenraad Devriendt, Elisabeth Fastnacht, A. Forderer, U Friedrich, Thj Goodship, M. Greiwe, Henning Hamm, Raoul C. M. Hennekam, Georg Klaus Hinkel, Maria Hoeltzenbein, Hülya Kayserili, F. Majewski, M Mathieu, Ross McLeod, Alina T. Midro, Ute Moog, Toshiro Nagai, Norio Niikawa, Karen Helene Ørstavik, E Plöchl, C. S. Seitz, Jörg Schmidtke, Lisbeth Tranebjærg, Masato Tsukahara, B Wittwer, Bernhard Zabel, Gabriele Gillessen‐Kaesbach, Bernhard Horsthemke

    Vydáno 2001
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  7. 7
    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Autor Gillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward Blair, Nenad Blau, David T. Bonthron, Tracy A. Briggs, Louise Brueton, Han G. Brunner, Christopher J. Burke, Ian Carr, Daniel R. Carvalho, Kate Chandler, H.‐J. Christen, Peter Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Àngels García‐Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. M. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong‐hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, W Kratzer, Didier Lacombe, Lieven Lagae, P. Landrieu, Giovanni Lanzi, Andrea Leitch, Ming Lim, John H. Livingston, Charles Marques Lourenço, E G Hermione Lyall, Sally Ann Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melançon, Leena Mewasingh, Marie‐Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth Rosser, Kevin Rostásy, Agathe Roubertie, Amparo Sanchís, Raphael Schiffmann, Sabine Scholl‐Bürgi, Sunita Seal, Stavit A. Shalev, Concepción Sierra Córcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John Tolmie

    Vydáno 2007
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