Որոնման արդյունքները - H.‐J. Christen
- Ցուցադրվում են 1 - 7 արդյունքները 7
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Lyme Disease Roland Nau, H.‐J. Christen, Helmut Eiffert
Հրապարակվել է 2009Revisão -
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SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency Lars Schlotawa, Eva C. Ennemann, Karthikeyan Radhakrishnan, Bernhard Schmidt, Anupam Chakrapani, H.‐J. Christen, Hugo W. Moser, Beat Steinmann, Thomas Dierks, Jutta Gärtner
Հրապարակվել է 2011Artigo -
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Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study 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
Հրապարակվել է 2010Artigo -
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Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum 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
Հրապարակվել է 2014Artigo -
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Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III 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
Հրապարակվել է 2001Artigo -
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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome 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
Հրապարակվել է 2007Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Gene
Genetics
Missense mutation
Mutation
Phenotype
Genotype
Medicine
Allele
Antibody
Biochemistry
Biotechnology
Borrelia
Borrelia afzelii
Borrelia burgdorferi
Borrelia garinii
Chemistry
Dermatology
Disease
Dopamine
Dopamine Plasma Membrane Transport Proteins
Dopamine transporter
Dopaminergic
Enzyme
Functional magnetic resonance spectroscopy of the brain
Genotyping
Genus
Homovanillic acid
In vivo
Internal medicine