Arama Sonuçları - Frits A. Beemer

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  1. 1
    Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

    Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips Yazar: Jan Hellemans, Paul Coucke, A Giedion, Anne De Paepe, Peter Krämer, Frits A. Beemer, Geert Mortier

    Baskı/Yayın Bilgisi 2003
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  2. 2
    Initial cancer genetic counseling consultation: Change in counselees' cognitions and anxiety, and association with addressing their needs and preferences

    Initial cancer genetic counseling consultation: Change in counselees' cognitions and anxiety, and association with addressing their needs and preferences Yazar: Arwen H. Pieterse, Margreet G.E.M. Ausems, Sandra van Dulmen, Frits A. Beemer, Jozien M. Bensing

    Baskı/Yayın Bilgisi 2005
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  3. 3
    Cancer Genetic Counseling: Communication and Counselees’ Post‐Visit Satisfaction, Cognitions, Anxiety, and Needs Fulfillment

    Cancer Genetic Counseling: Communication and Counselees’ Post‐Visit Satisfaction, Cognitions, Anxiety, and Needs Fulfillment Yazar: Arwen H. Pieterse, Sandra van Dulmen, Frits A. Beemer, Jozien M. Bensing, Margreet G.E.M. Ausems

    Baskı/Yayın Bilgisi 2007
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  4. 4
    Cognitive development in children with 22q11.2 deletion syndrome

    Cognitive development in children with 22q11.2 deletion syndrome Yazar: Sasja N. Duijff, Petra Klaassen, Henriëtte F. N. Swanenburg de Veye, Frits A. Beemer, Gerben Sinnema, Jacob Vorstman

    Baskı/Yayın Bilgisi 2012
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  5. 5
    Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study

    Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study Yazar: Heval Özgen, Gerhard Hellemann, Rebecca K. Stellato, Bertine Lahuis, Emma van Daalen, Wouter Staal, Marije Rozendal, Raoul C. M. Hennekam, Frits A. Beemer, Hermán van Engeland

    Baskı/Yayın Bilgisi 2010
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  6. 6
    Spinal complications in osteogenesis imperfecta 47 patients 1–16 years of age

    Spinal complications in osteogenesis imperfecta 47 patients 1–16 years of age Yazar: Raoul Engelbert, Willem J.M. Gerver, Liesbeth J Breslau-Siderius, Yolanda van der Graaf, Hans E. H. Pruijs, J. M. van Doorne, Frits A. Beemer, Paul J.M. Helders

    Baskı/Yayın Bilgisi 1998
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  7. 7
    Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT158 Allele

    Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT158 Allele Yazar: Jacob Vorstman, Bruce I. Turetsky, Monique E. J. Sijmens-Morcus, Monique G de Sain, Bert Dorland, Mirjam Sprong, Eric Rappaport, Frits A. Beemer, Beverly S. Emanuel, René S. Kahn, Hermán van Engeland, Chantal Kemner

    Baskı/Yayın Bilgisi 2008
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  8. 8
    Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

    Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome Yazar: Frances R. Goodman, Chiara Bacchelli, Angela F. Brady, Louise Brueton, Jean‐Pierre Fryns, Douglas P. Mortlock, Jeffrey W. Innis, Lewis B. Holmes, Alan E. Donnenfeld, Murray Feingold, Frits A. Beemer, Raoul C. M. Hennekam, Peter Scambler

    Baskı/Yayın Bilgisi 2000
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  9. 9
    Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

    Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors Yazar: Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Sébastien Courrier, Irène Boccaccio, Amandine Boyer, Wim J. Kleijer, Anja Wagner, Fabienne Giuliano, Frits A. Beemer, José M.P. Freije, Pierre Cau, Raoul C. M. Hennekam, Carlos López-Otı́n, Catherine Badens, Nicolas Lévy

    Baskı/Yayın Bilgisi 2005
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  10. 10
    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism Yazar: Emma van Daalen, Chantal Kemner, Nienke E. Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske H. Houben, Ruben van ‘t Slot, Maretha Jonge, Wouter Staal, Frits A. Beemer, Jacob Vorstman, J. Peter H. Burbach, Hans Kristian Ploos van Amstel, Ron Hochstenbach, Eva H. Brilstra, Martin Poot

    Baskı/Yayın Bilgisi 2011
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  11. 11
    Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

    Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy Yazar: Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, S. Hadj‐Rabia, C. Gaudy‐Marqueste, Henk Sillevis Smitt, P. Vabres, Laurence Bonhomme‐Faivre, Alain Verloès, Ton van Essen, Elisabeth Flori, Raoul C. M. Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, Nicolas Lévy

    Baskı/Yayın Bilgisi 2004
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  12. 12
    Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A

    Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A Yazar: Cornelis J.M. Lips, Rudy M. Landsvater, Jo W.M. Höppener, R. A. Geerdink, Geert H. Blijham, Joke M. Jansen-Schillhorn van Veen, Adriaan van Gils, Mireille J. de Wit, Richard Zewald, M J Berends, Frits A. Beemer, Joanneke Brouwers-Smalbraak, Rumo Jansen, Hans Kristian Ploos van Amstel, Theo van Vroonhoven, Thea M. Vroom

    Baskı/Yayın Bilgisi 1994
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  13. 13
    Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

    Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) Yazar: Martin Zenker, Julia Mayerle, Markus M. Lerch, Andreas Tagariello, Klaus Zerres, Peter R. Durie, Matthias Beier, Georg Hülskamp, Celina Guzmán, Helga Rehder, Frits A. Beemer, Ben C.J. Hamel, P Vanlieferinghen, Ruth Gershoni‐Baruch, Marta Wey Vieira, Miroslav Dumić, Ron Auslender, Vera Lúcia Gil‐da‐Silva‐Lopes, Simone Steinlicht, Manfred Rauh, Stavit Shalev, Christian T. Thiel, Andreas Winterpacht, Yong Tae Kwon, Alexander Varshavsky, André Reis

    Baskı/Yayın Bilgisi 2005
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  14. 14
    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism Yazar: Bert van der Zwaag, Lude Franke, Martin Poot, Ron Hochstenbach, Henk A. Spierenburg, Jacob Vorstman, Emma van Daalen, Maretha Jonge, Nienke E. Verbeek, Eva H. Brilstra, Ruben van ‘t Slot, Roel A. Ophoff, Michael A. van Es, Hylke M. Blauw, Jan H. Veldink, Jacobine E. Buizer‐Voskamp, Frits A. Beemer, Leonard H. van den Berg, Cisca Wijmenga, Hans Kristian Ploos van Amstel, Hermán van Engeland, J. Peter H. Burbach, Wouter Staal

    Baskı/Yayın Bilgisi 2009
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  15. 15
    p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

    p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation Yazar: Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad, Eugenio Sangiorgi, Fiorella Gurrieri, Pascal H. G. Duijf, Kaate R. J. Vanmolkot, Ellen van Beusekom, Sylvia E. C. van Beersum, Jacopo Celli, Gerard Merkx, Romano Tenconi, J. P. Fryns, Alain Verloès, Ruth Newbury‐Ecob, Annick Raas‐Rotschild, Frank Majewski, Frits A. Beemer, Andreas Janecke, David Chitayat, Giangiorgio Crisponi, Hülya Kayserili, John R.W. Yates, Giovanni Neri, Han G. Brunner

    Baskı/Yayın Bilgisi 2001
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  16. 16
    Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

    Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients Yazar: Tingwei Guo, Donna M. McDonald‐McGinn, Anna Błońska, Alan Shanske, Anne S. Bassett, Eva W.C. Chow, Mark Bowser, Molly B. Sheridan, Frits A. Beemer, Koenraad Devriendt, Ann Swillen, Jeroen Breckpot, Maria Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob D. Johnson, Jonathan H. Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damián Heine‐Suñer, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine H. Zackai, Tao Wang, Robert J. Shprintzen, Beverly S. Emanuel, Bernice E. Morrow

    Baskı/Yayın Bilgisi 2011
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  17. 17
    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients Yazar: Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier

    Baskı/Yayın Bilgisi 2010
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