Hasil Pencarian - Carlo L M Marcelis

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  1. 1
    Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

    Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. oleh Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, Sita H Vermeulen, Carlo L M Marcelis, Erwin Brosens, Paul M A Broens, Markus Homberg, Michael Ludwig, Ekkehart Jenetzky, Nadine Zwink, Cornelius E J Sloots, Annelies de Klein, Alice S Brooks, Robert M W Hofstra, Sophie A C Holsink, Loes F M van der Zanden, Tessel E Galesloot, Paul Kwong-Hang Tam, Marloes Steehouwer, Rocio Acuna-Hidalgo, Maartje van de Vorst, Lambertus A Kiemeney, Maria-Mercè Garcia-Barceló, Ivo de Blaauw, Han G Brunner, Nel Roeleveld, Iris A L M van Rooij

    Diterbitkan 2019-01-01
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  2. 2
    A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

    A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies oleh Romy van de Putte, Gabriel C. Dworschak, Gabriel C. Dworschak, Erwin Brosens, Erwin Brosens, Heiko M. Reutter, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Michael D. Bates, Marc A. Levitt, Marc A. Levitt, Marc A. Levitt, Alberto Peña, Alberto Peña, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen, Alexander Hoischen

    Diterbitkan 2020-06-01
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  3. 3
    A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

    A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy oleh Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A. L. M. van Rooij, Wouter F. J. Feitz, Carlo L. M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M. Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter

    Diterbitkan 2022-11-01
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  4. 4
    SLC20A1 Is Involved in Urinary Tract and Urorectal Development

    SLC20A1 Is Involved in Urinary Tract and Urorectal Development oleh Johanna Magdalena Rieke, Johanna Magdalena Rieke, Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Michael Pleschka, Alina C. Hilger, Alina C. Hilger, Sophia Schneider, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Catherine E. Keegan, Amit Sharma, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Ekkehart Jenetzky, Alfredo Brusco, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Adrian S. Woolf, Benjamin Odermatt, Benjamin Odermatt, Heiko Reutter, Heiko Reutter

    Diterbitkan 2020-08-01
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