Search Results - Petr Jira

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  1. 1
    Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome

    Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome by Petr Jira, Ron A. Wevers, Jan de Jong, M. Estela Rubio‐Gozalbo, Fokje S.M. Janssen-Zijlstra, Arno van Heijst, R. C. A. Sengers, Jan Smeitink

    Published 2000
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  2. 2
    Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

    Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene by Hans R. Waterham, Frits A. Wijburg, Raoul C. M. Hennekam, P. Vreken, Bwee Tien Poll‐The, L. Dorland, Marinus Durán, Petr Jira, Jan Smeitink, Ron A. Wevers, Ronald J. A. Wanders

    Published 1998
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  3. 3
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients by Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne Hove, Sandra Jansen, Petr Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance T. R. M. Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter D. Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. M. Hennekam

    Published 2020
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  4. 4
    Bone Mineral Density in Children and Adolescents With Prader-Willi Syndrome: A Longitudinal Study During Puberty and 9 Years of Growth Hormone Treatment

    Bone Mineral Density in Children and Adolescents With Prader-Willi Syndrome: A Longitudinal Study During Puberty and 9 Years of Growth Hormone Treatment by Nienke Bakker, Renske Kuppens, Elbrich P. C. Siemensma, Roderick F. A. Tummers-de Lind van Wijngaarden, Dederieke A. M. Festen, G. C. B. Bindels-de Heus, Gianni Bocca, Danny A. J. P. Haring, J. J. Gera Hoorweg-Nijman, E. C. A. M. Houdijk, Petr Jira, L. Lunshof, Roelof J. Odink, Wilma Oostdijk, Joost Rotteveel, A. A. E. M. Van Alfen, Mariëtte van Leeuwen, Hester van Wieringen, M. E. J. Wegdam-den Boer, Nitash Zwaveling‐Soonawala, Anita Hokken-Koelega

    Published 2015
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  5. 5
    Efficacy and Safety of Long-Term Continuous Growth Hormone Treatment in Children with Prader-Willi Syndrome

    Efficacy and Safety of Long-Term Continuous Growth Hormone Treatment in Children with Prader-Willi Syndrome by Roderick F. A. de Lind van Wijngaarden, Elbrich P. C. Siemensma, Dederieke A. M. Festen, Barto J. Otten, Edgar van Mil, Joost Rotteveel, Roelof J. Odink, G. C. B. Bindels-de Heus, Mariëtte van Leeuwen, Danny A. J. P. Haring, Gianni Bocca, E. C. A. M. Houdijk, J. J. Gera Hoorweg-Nijman, René C. F. M. Vreuls, Petr Jira, A.S. Paul van Trotsenburg, Boudewijn Bakker, Eelco J. Schroor, Jan Willem Pilon, Jan M. Wit, Stenvert L. S. Drop, Anita C. S. Hokken‐Koelega

    Published 2009
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  6. 6
    The phenotype of recurrent 10q22q23 deletions and duplications

    The phenotype of recurrent 10q22q23 deletions and duplications by Bregje W.M. van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh C. Sreenath Nagamani, Diane L. Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sébastien Jacquemont, J. Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V.A.M. Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Paweł Stankiewicz, Han G. Brunner, Orsetta Zuffardi, Scott B. Selleck, James R. Lupski, Bert B.A. de Vries

    Published 2011
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  7. 7
    Eight Years of Growth Hormone Treatment in Children With Prader-Willi Syndrome: Maintaining the Positive Effects

    Eight Years of Growth Hormone Treatment in Children With Prader-Willi Syndrome: Maintaining the Positive Effects by Nienke Bakker, Renske Kuppens, Elbrich P. C. Siemensma, Roderick F. A. Tummers-de Lind van Wijngaarden, Dederieke A. M. Festen, G. C. B. Bindels-de Heus, Gianni Bocca, Danny A. J. P. Haring, J. J. Gera Hoorweg-Nijman, E. C. A. M. Houdijk, Petr Jira, L. Lunshof, Roelof J. Odink, Wilma Oostdijk, Joost Rotteveel, Eelco J. Schroor, A. A. E. M. Van Alfen, Mariëtte van Leeuwen, Evelyn van Pinxteren-Nagler, Hester van Wieringen, René C. F. M. Vreuls, Nitash Zwaveling‐Soonawala, Maria de Ridder, Anita C. S. Hokken‐Koelega

    Published 2013
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  8. 8
    Beneficial Effects of Growth Hormone Treatment on Cognition in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

    Beneficial Effects of Growth Hormone Treatment on Cognition in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study by Elbrich P. C. Siemensma, Roderick F. A. Tummers-de Lind van Wijngaarden, Dederieke A. M. Festen, Zyrhea C. E. Troeman, A.A.E.M. van Alfen-van der Velden, Barto J. Otten, Joost Rotteveel, Roelof J. Odink, G. C. B. Bindels-de Heus, Mariëtte van Leeuwen, Danny A. J. P. Haring, Wilma Oostdijk, Gianni Bocca, E. C. A. M. Houdijk, A.S. Paul van Trotsenburg, J. J. Gera Hoorweg-Nijman, Hester van Wieringen, René C. F. M. Vreuls, Petr Jira, Eelco J. Schroor, Evelyn van Pinxteren-Nagler, Jan Willem Pilon, L. Lunshof, Anita C. S. Hokken‐Koelega

    Published 2012
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  9. 9
    Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency by Nils Krone, Nicole Reisch, Jan Idkowiak, Vivek Dhir, Hannah E Ivison, Beverly Hughes, Ian T. Rose, Donna O’Neil, Raymon Vijzelaar, Matthew J. Smith, Fiona MacDonald, Trevor Cole, Nicolai Adolphs, John Barton, Edward Blair, Stephen R. Braddock, Felicity Collins, Deborah Cragun, Mehul Dattani, Ruth Day, Shelley Dougan, Miriam Feist, Michael Gottschalk, John W. Gregory, Michaela Haim, Rachel Harrison, Ann Haskins Olney, Berthold P. Hauffa, Peter C. Hindmarsh, Robert J. Hopkin, Petr Jira, Marlies Kempers, Michiel N. Kerstens, Mohamed M. Khalifa, Birgit Köhler, Dominique Maiter, Shelly Nielsen, Stephen O’Riordan, Christian Roth, Kate Shane-Carson, Martin Silink, Nike Stikkelbroeck, Elizabeth Sweeney, Maria Szarras‐Czapnik, John Waterson, Lori Williamson, Michaela F. Hartmann, Norman Taylor, Stefan A. Wudy, E Małunowicz, Cedric Shackleton, Wiebke Arlt

    Published 2011
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