檢索結果 - Saskia Hopman

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  1. 1
    Face shape differs in phylogenetically related populations

    Face shape differs in phylogenetically related populations 由 Saskia Hopman, Johannes H. M. Merks, Michael Suttie, Raoul C. M. Hennekam, Peter Hammond

    出版 2014
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  2. 2
    Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups

    Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups 由 Saskia M. Maas, Fleur Vansenne, D.J. Kadouch, Abdulla Ibrahim, Jet Bliek, Saskia Hopman, Marcel M.A.M. Mannens, Johannes H. M. Merks, Eamonn R. Maher, Raoul C. M. Hennekam

    出版 2016
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    Revisão
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  3. 3
    Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

    Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies 由 Shoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori, Nobuhiko Okamoto, Raoul C. M. Hennekam, Saskia Hopman, Hirofumi Ohashi, Seiji Mizuno, Yoriko Watanabe, Hotaka Kamasaki, Ikuko Kondo, Nobuko Moriyama, Kenji Kurosawa, Hiroshi Kawame, Ryuhei Okuyama, Masue Imaizumi, Takeshi Rikiishi, Shigeru Tsuchiya, Shigeo Kure, Yoichi Matsubara

    出版 2010
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  4. 4
    Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization

    Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization 由 Janna A. Hol, Roland P. Kuiper, Freerk van Dijk, Esmé Waanders, Sophie E. van Peer, Marco J. Koudijs, Reno S. Bladergroen, Simon V. van Reijmersdal, Lionel Morgado, Jet Bliek, Maria Lombardi, Saskia Hopman, Jarno Drost, Ronald R. de Krijger, Marry M. van den Heuvel‐Eibrink, Marjolijn C.J. Jongmans

    出版 2022
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  5. 5
    Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm

    Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm 由 Jette J. Bakhuizen, Saskia Hopman, Machteld I. Bosscha, Charlotte J. Dommering, Marry M. van den Heuvel‐Eibrink, Janna A. Hol, Lennart Kester, Marco J. Koudijs, Karin P.S. Langenberg, Jan Loeffen, Jasper van der Lugt, Annette C. Moll, Max M. van Noesel, Stephanie E. Smetsers, Evelien de Vos‐Kerkhof, Johannes H. M. Merks, Roland P. Kuiper, Marjolijn C.J. Jongmans

    出版 2023
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  6. 6
    High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

    High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome 由 Leanne de Kock, Yu Chang Wang, Timothée Revil, Dunarel Badescu, Bárbara Rivera, Nelly Sabbaghian, Mona K. Wu, Evan Weber, Claudio Sandoval, Saskia Hopman, Johannes H. M. Merks, Johanna M. van Hagen, Antonia H. Bouts, David A. Plager, Aparna Ramasubramanian, Linus Forsmark, Kristine L Doyle, Tonja Toler, Janine Callahan, Charlotte Engelenberg, Dorothée Bouron-Dal Soglio, John R. Priest, Jiannis Ragoussis, William D. Foulkes

    出版 2015
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  7. 7
    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer 由 Illja J. Diets, Esmé Waanders, Marjolijn J. L. Ligtenberg, Diede A.G. van Bladel, Eveline J. Kamping, Peter M. Hoogerbrugge, Saskia Hopman, Maran J.W. Olderode-Berends, Erica H. Gerkes, David A. Koolen, Carlo Marcelis, Gijs W.E. Santen, Martine J. van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Młynarski, Denisa Ilenčíková, Anneke Vulto- van Silfhout, Thatjana Gardeitchik, Eveline S. de Bont, Jan Loeffen, Anja Wagner, Arjen R. Mensenkamp, Roland P. Kuiper, Nicoline Hoogerbrugge, Marjolijn C.J. Jongmans

    出版 2018
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  8. 8
    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants 由 Sylvia Huisman, Paul A. Mulder, E. Redeker, Ingrid Bader, Anne‐Marie Bisgaard, Alice S. Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valérie Cormier‐Daire, Matthew A. Deardorff, Karin E. M. Diderich, Mariet Elting, Anthonie van Essen, David Fitzpatrick, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Katta M. Girisha, Yvonne Hilhorst‐Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J. Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D. Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna Moss, Sarah E. Noon, Chris Oliver, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C. M. Hennekam

    出版 2017
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  9. 9
    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder 由 Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, François Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, María Soledad Lopez Garcia, Renée Perrier, Sérgio B. Sousa, Pedro Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul‐Rahman, Christophe Philippe, Ange‐Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Laura Davis‐Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Daniëlle G.M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph D. Buxbaum, Bruce D. Gelb, Branko Aleksić, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Bénédicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth Falb, Angelika Rieß, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi‐Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I Dagli, Emmelien Aten, Anna Hurst, Alesha Hicks

    出版 2023
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