Søgeresultater - Gert Van Goethem

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  1. 1
    Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

    Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy af Gert Van Goethem, Marianne Schwartz, Ann Löfgren, Bart Dermaut, Christine Van Broeckhoven, John Vissing

    Udgivet 2003
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  2. 2
    Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

    Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders af Anna H. Hakonen, Guido Davidzon, Renato Salemi, Laurence A. Bindoff, Gert Van Goethem, Salvatore DiMauro, David R. Thorburn, Anu Suomalainen

    Udgivet 2007
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  3. 3
    Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

    Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern af Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, Gert Van Goethem, Koenraad Devriendt, Mónica Roselló, Sonia Mayo, Francisco Martı́nez, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Joris Vermeesch, Peter Marynen, Guy Froyen

    Udgivet 2016
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  4. 4
    Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

    Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin af Anna H. Hakonen, Silja Heiskanen, Vesa Juvonen, Ilse Lappalainen, Petri Luoma, Maria Rantamäki, Gert Van Goethem, A. Löfgren, Peter Hackman, Anders Paetau, Seppo Kaakkola, Kari Majamaa, Teppo Varilo, Bjarne Udd, Helena Kääriäinen, Laurence A. Bindoff, Anu Suomalainen

    Udgivet 2005
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  5. 5
    The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome

    The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome af Alain D. Dekker, Silvia Sacco, Angelo Carfì, Bessy Benejam, Yannick Vermeiren, Gonny Beugelsdijk, Mieke Schippers, Lyanne Hassefras, José Eleveld, Sharina Grefelman, Roelie Fopma, Monique Bomer-Veenboer, M. Botí, G. Danielle E. Oosterling, Esther Scholten, M. De Tollenaere, Laura Checkley, André Strydom, Gert Van Goethem, Graziano Onder, Rafael Blesa, Christine zu Eulenburg, Antonia Coppus, Anne-Sophie Rebillat, Juan Fortea, Peter Paul De Deyn

    Udgivet 2018
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  6. 6
    What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

    What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? af Vivienne C. M. Neeve, David C. Samuels, Laurence A. Bindoff, Bianca van den Bosch, Gert Van Goethem, Hubert Smeets, Anne Lombès, Claude Jardel, Michio Hirano, Salvatore DiMauro, Maaike de Vries, Jan Smeitink, Bart W. Smits, I.F.M. de Coo, Carsten Saft, Thomas Klopstock, Bianca-Cortina Keiling, Birgit Czermin, Angela Abicht, Hanns Lochmüller, Gavin Hudson, Gráinne S. Gorman, Douglass M. Turnbull, Robert W. Taylor, Elke Holinski‐Feder, Patrick F. Chinnery, Rita Horváth

    Udgivet 2012
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