Ngā hua rapu - Kathleen M. Gorman

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  1. 1
    Genetic potassium channel-associated epilepsies: Clinical review of the Kv family

    Genetic potassium channel-associated epilepsies: Clinical review of the Kv family mā Nicholas M. Allen, Sarah Weckhuysen, Kathleen M. Gorman, Mary D. King, Holger Lerche

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    Disappearing act: COVID-19 and paediatric emergency department attendances

    Disappearing act: COVID-19 and paediatric emergency department attendances mā Lisa Dann, John Fitzsimons, Kathleen M. Gorman, Jonathan O’B Hourihane, Ikechukwu Okafor

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Case Report: Benefits and Challenges of Long-term Eculizumab in Atypical Hemolytic Uremic Syndrome

    Case Report: Benefits and Challenges of Long-term Eculizumab in Atypical Hemolytic Uremic Syndrome mā Noelle Cullinan, Kathleen M. Gorman, Michael Riordan, Mary Waldron, Timothy H.J. Goodship, Atif Awan

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Everolimus precision therapy for the <scp>GATOR1</scp>‐related epilepsies: A case series

    Everolimus precision therapy for the <scp>GATOR1</scp>‐related epilepsies: A case series mā Patrick B. Moloney, Hugh Kearney, Katherine A. Benson, Daniel J. Costello, Gianpiero L. Cavalleri, Kathleen M. Gorman, Bryan J. Lynch, Norman Delanty

    I whakaputaina 2023
    Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families

    NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families mā Maryam Al Shehhi, Eva Forman, Jacqueline Fitzgerald, Veronica McInerney, Janusz Krawczyk, Sanbing Shen, David R. Betts, Linda Mc Ardle, Kathleen M. Gorman, Mary D. King, Andrew Green, Louise Gallagher, Sally Ann Lynch

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Clinical and genetic spectrum of SCN2A-associated episodic ataxia

    Clinical and genetic spectrum of SCN2A-associated episodic ataxia mā Niklas Schwarz, Thomas Bast, Eija Gaily, G. Golla, Kathleen M. Gorman, Lyn R. Griffiths, Andreas Hahn, Juliette Hukin, Marissa King, Christian Korff, María J. Miranda, Rikke S. Møller, Bernd A. Neubauer, Robert A. Smith, Thomas Smol, Pasquale Striano, B. Stroud, María Vaccarezza, Gerhard Kluger, Holger Lerche, Walid Fazeli

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    <scp><i>DNAJC6</i></scp> Mutations Disrupt Dopamine Homeostasis in Juvenile <scp>Parkinsonism‐Dystonia</scp>

    <scp><i>DNAJC6</i></scp> Mutations Disrupt Dopamine Homeostasis in Juvenile <scp>Parkinsonism‐Dystonia</scp> mā Joanne Ng, Elisenda Cortès‐Saladelafont, Lucia Abela, Pichet Termsarasab, Kshitij Mankad, Sniya Sudhakar, Kathleen M. Gorman, Simon J.R. Heales, Simon Pope, Lorenzo Biassoni, Barbara Csányi, J. R. Cain, Karl Rakshi, Helen Coutts, Sandeep Jayawant, Rosalind J Jefferson, Deborah Hughes, Àngels García‐Cazorla, Detelina Grozeva, F. Lucy Raymond, Belén Pérez‐Dueñas, Christian de Goede, Toni S. Pearson, Esther Meyer, Manju A. Kurian

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Synergistic use of glycomics and single‐molecule molecular inversion probes for <scp>identification</scp> of congenital disorders of glycosylation type‐1

    Synergistic use of glycomics and single‐molecule molecular inversion probes for <scp>identification</scp> of congenital disorders of glycosylation type‐1 mā Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten, Karin Huijben, Wee Teik Keng, Carlos E. Speck‐Martins, Daniel R. Carvalho, Isabela M. P. O. Rizzo, Walquiria Domingues de Mello, Rebecca Heiner‐Fokkema, Kathleen M. Gorman, Stephanie Grünewald, Helen Michelakakis, Marina Moraitou, Diego Martinelli, Monique van Scherpenzeel, Mirian C. H. Janssen, Lonneke de Boer, Lambertus P. van den Heuvel, Christian Thiel, Dirk J. Lefeber

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies mā Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W. Klee, Brendan C. Lanpher, Ralitza H. Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen M. Gorman, Mary D. King, Nicholas M. Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, José M. Serratosa, Beatriz G. Giráldez, Ingo Helbig, Eric D. Marsh, Margaret O’Brien, Christina A Bergqvist, Adrian Binelli, Brenda E. Porter, Eduardo José Bernardo Zaeyen, Dafne Dain Gandelman Horovitz, Markus Wolff, Dragan Marjanović, Hande Çağlayan, Mutluay Arslan, Sérgio D.J. Pena, Sanjay M. Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R. Lemke, Rikke S. Møller, Holger Lerche, Guido Rubboli

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    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
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia mā Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis‐Juan, Keren Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit Pressler, Michael A. Simpson, Geoff Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, J Gordon Millichap, Gemma L. Carvill, Jill Clayton‐Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Artigo
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