Resultats de la cerca - Anne‐Marie Bisgaard

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  1. 1
    Validating the Rett Syndrome Gross Motor Scale

    Validating the Rett Syndrome Gross Motor Scale per Jenny Downs, Michelle Stahlhut, Kingsley Wong, Birgit Syhler, Anne‐Marie Bisgaard, Peter Jacoby, Helen Leonard

    Publicat 2016
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  2. 2
    Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

    Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation per Reinhard Ullmann, Gillian Turner, Maria Kirchhoff, Wei Chen, Bruce J. Tonge, Carla Rosenberg, Michael Field, Angela Maria Vianna‐Morgante, Louise Christie, Ana Cristina Victorino Krepischi, Lynn Banna, Avril V. Brereton, Alyssa C. Hill, Anne‐Marie Bisgaard, Ines Müller, Claus Hultschig, Fikret Erdogan, Georg Wieczorek, Hans‐Hilger Ropers

    Publicat 2007
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  3. 3
    Epilepsy in Rett syndrome—Lessons from the Rett networked database

    Epilepsy in Rett syndrome—Lessons from the Rett networked database per Andreea Nissenkorn, Rachel S. Levy‐Drummer, Ori Bondi, Alessandra Renieri, Laurent Villard, Francesca Mari, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Ilaria Meloni, Mercédes Pineda, Judith Armstrong, Angus Clarke, Nadia Bahi‐Buisson, Bosnjak Vlatka Mejaski, Milena Djurić, Dana Craiu, Alexsandra Djukic, Giorgio Pini, Anne‐Marie Bisgaard, Béla Melegh, Aglaia Vignoli, Silvia Russo, C. Anghelescu, Edvige Veneselli, Joussef Hayek, Bruria Ben Zeev

    Publicat 2015
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  4. 4
    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 per 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

    Publicat 2020
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  5. 5
    Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

    Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence per Amanda Jefferson, Helen Leonard, Aris Siafarikas, Helen Woodhead, Sue Fyfe, Leanne M. Ward, Craig Munns, Kathleen J. Motil, Daniel Tarquinio, Jay R. Shapiro, Torkel B. Brismar, Bruria Ben‐Zeev, Anne‐Marie Bisgaard, Giangennaro Coppola, Carolyn Ellaway, Michael Freilinger, Suzanne Geerts, Peter Humphreys, Mary Jones, Jane B. Lane, Gerry Larsson, Meir Lotan, Alan K. Percy, Mercédes Pineda, Steven A. Skinner, Birgit Syhler, Sue Ann Thompson, Batia Weiss, Ingegerd Witt Engerström, Jenny Downs

    Publicat 2016
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  6. 6
    Analysis of the Phenotypes in the Rett Networked Database

    Analysis of the Phenotypes in the Rett Networked Database per Elisa Frullanti, Filomena Tiziana Papa, Elisa Grillo, Angus Clarke, Bruria Ben‐Zeev, Mercédes Pineda, Nadia Bahi‐Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martínez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djurić, Anne‐Marie Bisgaard, Kirstine Ravn, Vlatka Mejaški Bošnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, V. Yu. Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

    Publicat 2019
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  7. 7
    Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants

    Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants per Tristan T. Sands, Francesco Miceli, Gaëtan Lesca, Anita Beck, Lynette G. Sadleir, Daniel K. Arrington, Bitten Schönewolf‐Greulich, Sébastien Moutton, Anna Lauritano, Piera Nappi, Maria Virginia Soldovieri, Ingrid E. Scheffer, Heather C. Mefford, Nicholas Stong, Erin L. Heinzen, David B. Goldstein, Ana Grijalvo Perez, Eric H. Kossoff, Amber Stocco, Jennifer A. Sullivan, Vandana Shashi, Bénédicte Gérard, Christine Francannet, Anne‐Marie Bisgaard, Zeynep Tümer, Marjolaine Willems, François Rivier, Antonio Vitobello, Kavita Thakkar, Deepa Rajan, A. James Barkovich, Sarah Weckhuysen, Edward C. Cooper, Maurizio Taglialatela, Maria Roberta Cilio

    Publicat 2019
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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 per 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

    Publicat 2017
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  9. 9
    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement per 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

    Publicat 2018
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  10. 10
    DLG4-related synaptopathy: a new rare brain disorder

    DLG4-related synaptopathy: a new rare brain disorder per Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés, Kimberly A. Aldinger, Íñigo Marcos‐Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, Stéphanie Arpin, Vahid Bahrambeigi, Gea Beunders, Anne‐Marie Bisgaard, Victoria A. Bjerregaard, Ange‐Line Bruel, Thomas D. Challman, Benjamin Cogné, Christine Coubes, de Man, Anne‐Sophie Denommé‐Pichon, Thomas J. Dye, Frances Elmslie, Lars Feuk, Sixto García‐Miñaúr, Tracy S. Gertler, Elisa Giorgio, Nicolas Gruchy, Tobias B. Haack, Chad R. Haldeman‐Englert, Bjørn Ivar Haukanes, Juliane Hoyer, Anna Hurst, Bertrand Isidor, Maria Soller, Sulagna Kushary, Malin Kvarnung, Yuval E. Landau, Kathleen A. Leppig, Anna Lindstrand, Lotte Kleinendorst, Alex MacKenzie, Giorgia Mandrile, Bryce A. Mendelsohn, Setareh Moghadasi, Jenny E.V. Morton, Sébastien Moutton, Amelie J. Müller, Melanie O’Leary, Marta Pacio‐Míguez, María Palomares‐Bralo, Sumit Parikh, Rolph Pfundt, Ben Pode‐Shakked, Anita Rauch, Elena Repnikova, Anya Revah‐Politi, Meredith J. Ross, Claudia Ruivenkamp, Elisabeth Sarrazin, Juliann M. Savatt, Agatha Schlüter, Bitten Schönewolf‐Greulich, Zohra Shad, Charles Shaw‐Smith, Joseph T.C. Shieh, M Shohat, Stephanie Spranger, Heidi Thiese, Frédéric Tran Mau‐Them, Bregje W.M. van Bon, Ineke van de Burgt, Ingrid M.B.H. van de Laar, Esmée van Drie, Mieke M. van Haelst, Conny M.A. van Ravenswaaij‐Arts, Edgard Verdura, Antonio Vitobello, Stephan Waldmüller, Sharon Whiting, Christiane Zweier, Carlos E. Prada, Bert B.A. de Vries, William B. Dobyns, Simone Frizell Reiter, Paulino Gómez‐Puertas, Aurora Pujol, Zeynep Tümer

    Publicat 2021
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