Ngā hua rapu - Dora Steel

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  1. 1
    An Update on the Phenotype, Genotype and Neurobiology of <scp>ADCY5‐Related</scp> Disease

    An Update on the Phenotype, Genotype and Neurobiology of <scp>ADCY5‐Related</scp> Disease mā Arianna Ferrini, Dora Steel, Katy Barwick, Manju A. Kurian

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    Dravet syndrome and its mimics: Beyond <i><scp>SCN</scp>1A</i>

    Dravet syndrome and its mimics: Beyond <i><scp>SCN</scp>1A</i> mā Dora Steel, Joseph D. Symonds, Sameer M. Zuberi, Andreas Brunklaus

    I whakaputaina 2017
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    Revisão
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  3. 3
    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients mā Toni S. Pearson, Laura Gilbert, Thomas Opladen, Ángeles García‐Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, S K Tay, Jolanta Sykut‐Cegielska, Roser Pons, Saadet Mercimek‐Andrews, Mitsuhiro Kato, Thomas Lücke, Mari Oppebøen, Manju A. Kurian, Dora Steel, Filippo Manti, Kathleen D. Meeks, Kathrin Jeltsch, Lisa Flint

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp>

    Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp> mā Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren A. Marks, Lydie Bürglen, Diane Demailly, Phillipe Coubes, Mayté Castro Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Németh, Martin A. Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Béroud, Fernando Delgado Acosta, C. Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim

    I whakaputaina 2022
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    Artigo
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  5. 5
    Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

    Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities... mā Dora Steel, Michael Zech, Chen Zhao, Katy Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matěj Škorvánek, Ján Necpál, Ryan L. Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik‐Jan Kamsteeg, Marina A.J. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabé I. Bustos, Paulina González-Latapí, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Bötzel, Jan Christoph Koch, Tomasz Kmieć, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nicholas Wood, Henry Houlden, Paul Gissen, Steven Lubbe, Carolyn M. Sue, Laura Cif, Niccolò E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann

    I whakaputaina 2020
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    Artigo
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  6. 6
    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation mā Laura Cif, Diane Demailly, Jean‐Pierre Lin, Katy Barwick, Mario Sa, Lucia Abela, Sony Malhotra, W.K. Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko, Russell C. Dale, Claudio M. de Gusmão, Jennifer Friedman

    I whakaputaina 2020
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    Artigo
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  7. 7
    Bi-allelic variants in INTS11 are associated with a complex neurological disorder

    Bi-allelic variants in INTS11 are associated with a complex neurological disorder mā Burak Tepe, Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers, Yuri A. Zárate, G. Bradley Schaefer, Jorge Luis Granadillo De Luque, Daniel Wegner, Benjamin Cogné, Brigitte Gilbert‐Dussardier, Xavier Le Guillou, Eric J. Wagner, Lynn Pais, Jennifer E. Neil, Ganeshwaran H. Mochida, Christopher A. Walsh, Nurit Magal, Valerie Drasinover, Mordechai Shohat, Tanya L. Schwab, C Schmitz, Karl J. Clark, Anthony L. Fine, Brendan C. Lanpher, Ralitza H. Gavrilova, Pierre Blanc, Lydie Bürglen, Alexandra Afenjar, Dora Steel, Manju A. Kurian, Prab Prabhakar, Sophie Gößwein, Nataliya Di Donato, Enrico Bertini, Michael F. Wangler, Shinya Yamamoto, Marco Tartaglia, Eric W. Klee, Hugo J. Bellen, Maria T. Acosta, Margaret P Adam, David R. Adams, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza

    I whakaputaina 2023
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