Search Results - Paul A. Mulder

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  1. 1
    Self-injurious behavior

    Self-injurious behavior by Sylvia Huisman, Paul A. Mulder, Janneke Kuijk, Myrthe Kerstholt, Agnies M. van Eeghen, Arnold G E Leenders, Ingrid van Balkom, Chris Oliver, Sigrid Piening, Raoul C. M. Hennekam

    Published 2017
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  2. 2
    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 by Lianne C. Krab, Íñigo Marcos‐Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne‐Marie Bisgaard, David Fitzpatrick, Sanna Gudmundsson, Sylvia Huisman, Tuğba Kalaycı, Saskia M. Maas, Francisco Martı́nez, Shane McKee, Leonie A. Menke, Paul A. Mulder, Oliver Murch, Michael Parker, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Jill A. Rosenfeld, Emanuela Scarano, Marwan Shinawi, Paulino Gómez‐Puertas, Zeynep Tümer, Raoul C. M. Hennekam

    Published 2020
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  3. 3
    Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

    Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement by Marcella Zollino, Christiane Zweier, Ingrid D. Van Balkom, David A. Sweetser, Joseph T. Alaimo, Emilia K. Bijlsma, Jannine D. Cody, Sarah H. Elsea, Irina Giurgea, Marina Macchiaiolo, Robert Śmigiel, Ronald L. Thibert, Ingrid Benoist, Jill Clayton‐Smith, C.F. de Winter, Stijn Deckers, Anusha Gandhi, Sylvia Huisman, Dagmar R. J. Kempink, Frea H. Kruisinga, Vittoria Lamacchia, Giuseppe Marangi, Leonie A. Menke, Paul A. Mulder, Ann Nordgren, Alessandra Renieri, Sue Routledge, Carol Saunders, Agnieszka Stembalska, Hans van Balkom, Sandra Whalen, Raoul C. M. Hennekam

    Published 2019
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  4. 4
    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants by 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

    Published 2017
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  5. 5
    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement by Antonie D. Kline, Joanna Moss, Angelo Selicorni, Anne‐Marie Bisgaard, Matthew A. Deardorff, Peter M. Gillett, Stacey L. Ishman, Lynne M. Kerr, Alex V. Levin, Paul A. Mulder, Feliciano J. Ramos, Jolanta Wierzba, Paola Francesca Ajmone, David Axtell, Natalie Blagowidow, Anna Cereda, Maria Antonella Costantino, Valérie Cormier‐Daire, David Fitzpatrick, Marco A. Grados, Laura Groves, W. Spencer Guthrie, Sylvia Huisman, Frank J. Kaiser, Gerritjan Koekkoek, Mary Levis, Milena Mariani, Joseph P. McCleery, Leonie A. Menke, Amy Metrena, Julia T. O’Connor, Chris Oliver, Juan Pié, Sigrid Piening, Carol Potter, Ana L. Quaglio, E. Redeker, David M. Richman, Claudia Rigamonti, Angell Shi, Zeynep Tümer, Ingrid D. C. van Balkom, Raoul C. M. Hennekam

    Published 2018
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  6. 6
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome by Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    Published 2018
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