Ngā hua rapu - Helena Malmgren

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  1. 1
    Expanding the ataxia with oculomotor apraxia type 4 phenotype

    Expanding the ataxia with oculomotor apraxia type 4 phenotype mā Martin Paucar, Helena Malmgren, A. Malcolm R. Taylor, John J. Reynolds, Per Svenningsson, Rayomand Press, Ann Nordgren

    I whakaputaina 2016
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  2. 2
    Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

    Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features mā Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie I. Nesbitt, Holly Dubbs, Elaine H. Zackai, Michael Parker, Francisca Millan, Kenneth N. Rosenbaum, Golder N. Wilson, Ann Nordgren

    I whakaputaina 2015
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  3. 3
    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... mā Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M.B. Carvalho, Malin Kvarnung, Giedre Grigelioniené, Britt‐Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii‐Hemming, Erik Iwarsson, Maria Soller, Kristina Lagerstedt‐Robinson, Agne Liedén, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson

    I whakaputaina 2019
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  4. 4
    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations mā Charlotte W. Ockeloen, Marjolein H. Willemsen, Sonja de Munnik, Bregje W.M. van Bon, Nicole de Leeuw, Aad Verrips, Sarina G. Kant, Elizabeth A. Jones, Han G. Brunner, Rosa Laura E. van Loon, Eric Smeets, Mieke M. van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniené, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas J. J. Maal, Celeste C. van Heumen, Helger G. Yntema, Carine Carels, Tjitske Kleefstra

    I whakaputaina 2014
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  5. 5
    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP mā Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke Schuurs-Hoeijmakers, Carlo Marcelis, Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Helger G. Yntema, Madhura Bakshi, Meredith Wilson, Kali Witherspoon, Helena Malmgren, Ann Nordgren, Göran Annerén, Marco Fichera, Paolo Bosco, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, R. Frank Kooy, Evan E. Eichler, Nathalie Van der Aa

    I whakaputaina 2014
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  6. 6
    De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

    De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations mā Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan A. Jolly, Grazia M.S. Mancini, Rolph Pfundt, Ka Man Wu, Conny M.A. van Ravenswaaij‐Arts, Hermine E. Veenstra‐Knol, Britt‐Marie Anderlid, Stephen A. Wood, Sau Wai Cheung, Angela Barnicoat, Frank J. Probst, Pilar Magoulas, Alice S. Brooks, Helena Malmgren, Arja Harila‐Saari, Carlo Marcelis, Maaike Vreeburg, Emma Hobson, V. Reid Sutton, Zornitza Stark, Julie Vogt, Nicola Cooper, Jiin Ying Lim, Sue Price, Angeline Lai, Deepti Domingo, Bruno Reversade, Jozef Gécz, Christian Gilissen, Han G. Brunner, Usha Kini, Ronald Roepman, Ann Nordgren, Tjitske Kleefstra

    I whakaputaina 2016
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  7. 7
    Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

    Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients mā Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt‐Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniené, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, K Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann–Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf Zetterström, Per Marits, Maria Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell

    I whakaputaina 2021
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  8. 8
    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP mā Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M.S. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije Meuwissen, Geert Vandeweyer, R. Frank Kooy, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransén, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabíola Paoli Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David A. Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurélia Jacquette, Laurence Faivre, Stéphane Bézieau, Bertrand Isidor, Angelika Rieß, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Madeleine Fannemel, Arie van Haeringen, Saskia M. Maas, Hermine E. Veenstra‐Knol, Meyke Schouten, Marjolein H. Willemsen, Carlo Marcelis, Charlotte W. Ockeloen, Ineke van der Burgt, Ilse Feenstra, Jasper van der Smagt, Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Domingo González‐Lamuño, Britt‐Marie Anderlid, Helena Malmgren, Magnus Nordenskjöld, Emma Clement, Jane A. Hurst, Kay Metcalfe, Sahar Mansour, Katherine Lachlan, Jill Clayton‐Smith, Laura G. Hendon, Omar Abdul‐Rahman, Eric M. Morrow, Clare McMillan, Jennifer Gerdts, Joseph Peeden, Samantha A. Schrier Vergano, Caitlin Valentino, Wendy K. Chung, Jillian R. Ozmore, Sandra Bedrosian‐Sermone, Anna Dennis, Kayla Treat, Susan Hughes, Nicole P. Safina, Jean‐Baptiste Le Pichon, Marianne McGuire, Elena Infante, Suneeta Madan‐Khetarpal, Sonal Desai, Paul J. Benke, Alyson Krokosky, Ingrid Cristian, Laura Baker, Karen W. Gripp, Holly A.F. Stessman, Jacob A. Eichenberger, Parul Jayakar

    I whakaputaina 2018
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