Søgeresultater - Louisa Kalsner

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  1. 1
    Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes

    Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes af Louisa Kalsner, Stormy J. Chamberlain

    Udgivet 2015
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  2. 2
    Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

    Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications af Louisa Kalsner, Jennifer Twachtman‐Bassett, Kristin Tokarski, Christine M. Stanley, Thyde Dumont‐Mathieu, Justin Cotney, Stormy J. Chamberlain

    Udgivet 2017
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  3. 3
    Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo <scp><i>PAK2</i></scp> Variant

    Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo <scp><i>PAK2</i></scp> Variant af Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A. Audano, Peter N. Robinson, Mark D. Adams, M. A. Kelly, Adam Matson

    Udgivet 2025
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  4. 4
    TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

    TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development af Geeske M. van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika Erwin, Karen W. Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna Geus, Louisa Kalsner, Arthur Sorlin, Ange‐Line Bruel, David A. Koolen, Melissa K. Gabriel, Mari Rossi, David Fitzpatrick, Andrew O.M. Wilkie, Eduardo Calpena, David Johnson, Alice S. Brooks, Marjon A. van Slegtenhorst, Julie Fleischer, Daniel Groepper, Kristin Lindstrom, A. Micheil Innes, Allison Goodwin, Jennifer Humberson, Amanda Noyes, Katherine G. Langley, Aida Telegrafi, Amy Blevins, Jessica F. Hoffman, María J. Guillen Sacoto, Jane Juusola, Kristin G. Monaghan, Sumit Punj, Marleen Simon, Rolph Pfundt, Ype Elgersma, Tjitske Kleefstra

    Udgivet 2021
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  5. 5
    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females af Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam Jackson, Alessandro Bruselles, Haley McConkey, Emilia Stellacci, Stefania Lo Cicero, Marialetizia Motta, Rosalba Carrozzo, Maria Lisa Dentici, Kirsty McWalter, Megha Desai, Kristin G. Monaghan, Aida Telegrafi, Christophe Philippe, Antonio Vitobello, Margaret Au, Katheryn Grand, Pedro A. Sanchez‐Lara, Joanne Baez, Kristin Lindstrom, Peggy Kulch, Jessica Sebastian, Suneeta Madan‐Khetarpal, Chelsea Roadhouse, Jennifer MacKenzie, Berrin Monteleone, Carol J. Saunders, July K. Jean Cuevas, Laura Cross, Dihong Zhou, Taila Hartley, Sarah L. Sawyer, Fabíola Paoli Monteiro, Tania Vertemati Secches, Fernando Kok, Laura Schultz‐Rogers, Erica L. Macke, Éva Morava, Eric W. Klee, Jennifer L. Kemppainen, Maria Iascone, Angelo Selicorni, Romano Tenconi, David J. Amor, Lynn Pais, Lyndon Gallacher, Peter D. Turnpenny, Karen Stals, Sian Ellard, Sara Cabet, Gaëtan Lesca, Pascal Joset, Katharina Steindl, Sarit Ravid, Karin Weiss, Alison M. R. Castle, Melissa T. Carter, Louisa Kalsner, Bert B.A. de Vries, Bregje W.M. van Bon, Marijke R. Wevers, Rolph Pfundt, Alexander P.A. Stegmann, Bronwyn Kerr, Helen Kingston, Kate Chandler, Willow Sheehan, Abdallah F. Elias, Deepali N. Shinde, Meghan C. Towne, Nathaniel H. Robin, Dana H. Goodloe, Adeline Vanderver, Omar Sherbini, Krista Bluske, R. Tanner Hagelstrom, Caterina Zanus, Flavio Faletra, Luciana Musante, Evangeline C. Kurtz‐Nelson, Rachel K. Earl, Britt‐Marie Anderlid, Gilles Morin, Marjon van Slegtenhorst, Karin E. M. Diderich, Alice S. Brooks, Joost Gribnau, Ruben Boers, Teresa Robert-Finestra, Lauren B. Carter, Anita Rauch, Paolo Gasparini

    Udgivet 2021
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