Výsledky vyhledávání - Mary D. King

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  1. 1
    Status dystonicus: a practice guide

    Status dystonicus: a practice guide Autor Nicholas M. Allen, Jean‐Pierre Lin, Tim Lynch, Mary D. King

    Vydáno 2013
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  2. 2
    Genetic potassium channel-associated epilepsies: Clinical review of the Kv family

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

    Vydáno 2019
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  3. 3
    Earlier treatment of NMDAR antibody encephalitis in children results in a better outcome

    Earlier treatment of NMDAR antibody encephalitis in children results in a better outcome Autor Susan Byrne, Cathal Walsh, Yael Hacohen, Eyal Muscal, Joseph Jankovic, Amber Stocco, Russell C. Dale, Angela Vincent, Ming Lim, Mary D. King

    Vydáno 2015
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  4. 4
    Effect of Dissemination of Evidence in Reducing Injuries from Falls

    Effect of Dissemination of Evidence in Reducing Injuries from Falls Autor Mary E. Tinetti, Dorothy I. Baker, Mary D. King, Margaret Gottschalk, Terrence E. Murphy, Denise Acampora, Bradley P. Carlin, Linda Leo‐Summers, Heather Allore

    Vydáno 2008
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  5. 5
    NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

    NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment Autor Jillian P. Casey, Svein I. Støve, Catherine McGorrian, Joseph Galvin, Marina Blenski, Aimee Dunne, Sean Ennis, Francesca Brett, Mary D. King, Thomas Arnesen, Sally Ann Lynch

    Vydáno 2015
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  6. 6
    Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

    Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie Autor Timo Imbach, Barbara Schenk, Els Schollen, Patricie Burda, Andreas Stutz, Stephanie Grünewald, Nicola M. Bailie, Mary D. King, Jaak Jaeken, Gert Matthijs, Eric G. Berger, Markus Aebi, Thierry Hennet

    Vydáno 2000
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  7. 7
    Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

    Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion Autor Nicholas M. Allen, Judith Conroy, Amre Shahwan, Bryan Lynch, Raony G. Correa, Sérgio D.J. Pena, Dara McCreary, Tiago R. Magalhães, Sean Ennis, Sally Ann Lynch, Mary D. King

    Vydáno 2015
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  8. 8
    NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families

    NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families Autor 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

    Vydáno 2018
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  9. 9
    Clinical features of childhood‐onset paroxysmal kinesigenic dyskinesia with <scp><i>PRRT</i></scp><i>2</i> gene mutations

    Clinical features of childhood‐onset paroxysmal kinesigenic dyskinesia with <scp><i>PRRT</i></scp><i>2</i> gene mutations Autor Laura Silveira‐Moriyama, A. Gardiner, Esther Meyer, Mary D. King, Martin A. Smith, Karl Rakshi, Alasdair Parker, Andrew A. Mallick, R. Malcolm Brown, Grace Vassallo, Philip Jardine, Marilisa M. Guerreiro, Andrew Lees, Henry Houlden, Manju A. Kurian

    Vydáno 2013
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  10. 10
    Benign hereditary chorea related to <i><scp>NKX</scp>2.1</i>: expansion of the genotypic and phenotypic spectrum

    Benign hereditary chorea related to <i><scp>NKX</scp>2.1</i>: expansion of the genotypic and phenotypic spectrum Autor Kathryn J. Peall, Daniel E. Lumsden, Rachel Kneen, Rajesh Madhu, Deirdre Peake, Frances Gibbon, Hilary Lewis, Tammy Hedderly, Esther Meyer, S. Robb, Bryan Lynch, Mary D. King, Jean‐Pierre Lin, Huw R. Morris, Heinz Jungbluth, Manju A. Kurian

    Vydáno 2013
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  11. 11
    The clinical utility of an <i>SCN1A</i> genetic diagnosis in infantile‐onset epilepsy

    The clinical utility of an <i>SCN1A</i> genetic diagnosis in infantile‐onset epilepsy Autor Andreas Brunklaus, Liam Dorris, Rachael Ellis, Eleanor Reavey, Elizabeth Lee, GORDON FORBES, Richard Appleton, J. Helen Cross, Colin D. Ferrie, Imelda Hughes, Alice Jollands, Mary D. King, John Livingston, Bryan Lynch, Sunny Philip, Ingrid E. Scheffer, Ruth Williams, Sameer M. Zuberi

    Vydáno 2012
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  12. 12
    Improving Delivery of Acute Stroke Therapy

    Improving Delivery of Acute Stroke Therapy Autor Lewis B. Morgenstern, Lara Staub, Wenyaw Chan, Theodore Wein, L. Kay Bartholomew, Mary D. King, Robert A. Felberg, W. Scott Burgin, Janet Y. Groff, Susan L. Hickenbottom, Kamaldeen R. Saldin, Andrew M. Demchuk, Anjali Kalra, Anupma Dhingra, James C. Grotta

    Vydáno 2002
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  13. 13
    Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

    Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion Autor Nigel F. Clarke, Leigh B. Waddell, Sandra T. Cooper, Margaret M. Perry, Robert L. Smith, Andrew J. Kornberg, Francesco Muntoni, Suzanne Lillis, Volker Straub, Kate Bushby, Michela Guglieri, Mary D. King, Michael A. Farrell, Isabelle Marty, Joël Lunardi, Nicole Monnier, Kathryn N. North

    Vydáno 2010
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  14. 14
    The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

    The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care Autor Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, Sumita Danda, Alka V. Ekbote, Solaf M. Elsayed, Louise Gibson, Judith A. Goodship, Andrew P. Jackson, Wee ik Te Keng, Mary D. King, Emma McCann, Toshino Motojima, J. Elliot Murray, Taku Omata, Daniela T. Pilz, Kate Pope, Katsuo Sugita, Susan M. White, Ian Wilson

    Vydáno 2015
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  15. 15
    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome Autor Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E. A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horváth, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh

    Vydáno 2016
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  16. 16
    Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

    Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum Autor Amy McTague, Richard Appleton, Shivaram Avula, J. Helen Cross, Mary D. King, Thomas S. Jacques, Sanjay Bhate, Anthony Cronin, A. Curran, Archana Desurkar, Michael A. Farrell, Elaine Hughes, Rosalind J Jefferson, Karine Lascelles, John H. Livingston, Esther Meyer, Ailsa McLellan, Annapurna Poduri, Ingrid E. Scheffer, Stefan Spinty, Manju A. Kurian, Rachel Kneen

    Vydáno 2013
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  17. 17
    SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

    SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype Autor Kathryn J. Peall, Manju A. Kurian, Mark Wardle, Adrian J. Waite, Tammy Hedderly, Jean‐Pierre Lin, Martin A. Smith, Alan Whone, Hardev Pall, Cathy White, Andrew Lux, Philip Jardine, Bryan Lynch, George Kirov, Séan O’Riordan, Michael Samuel, Timothy Lynch, Mary D. King, Patrick F. Chinnery, Thomas T. Warner, Derek J. Blake, Michael J. Owen, Huw R. Morris

    Vydáno 2014
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  18. 18
    Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

    Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy Autor Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker, Willy M. Nillesen, Helger G. Yntema, Andreas Tzschach, Martine Raynaud, D. Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, Didier Lacombe, Jean‐Michel Pédespan, Bernard Échenne, Gholamali Tariverdian, Declan O’Rourke, Mary D. King, Andrew Green, Margriet van Kogelenberg, Hilde Van Esch, Jozef Gécz, Ben C.J. Hamel, Hans van Bokhoven, Arjan P.M. de Brouwer

    Vydáno 2008
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  19. 19
    SGCE mutations cause psychiatric disorders: clinical and genetic characterization

    SGCE mutations cause psychiatric disorders: clinical and genetic characterization Autor Kathryn J. Peall, Daniel J. Smıth, Manju A. Kurian, Mark Wardle, Adrian J. Waite, Tammy Hedderly, Jean‐Pierre Lin, Martin A. Smith, Alan Whone, Hardev Pall, Cathy White, Andrew Lux, Philip Jardine, Narinder Bajaj, Bryan Lynch, George Kirov, Séan O’Riordan, Michael Samuel, Timothy Lynch, Mary D. King, Patrick F. Chinnery, Thomas T. Warner, Derek J. Blake, Michael J. Owen, Huw R. Morris

    Vydáno 2013
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  20. 20
    Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

    Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia Autor Yasmin Namavar, P. G. Barth, Paul R. Kasher, Fred van Ruissen, Knut Brockmann, G. Bernert, Karin Writzl, Karen Ventura, Kwang‐Ting Cheng, Donna M. Ferriero, Lina Basel‐Vanagaite, Veerle Rc Eggens, Ingeborg Krägeloh‐Mann, Linda De Meırleır, Mary D. King, John M. Graham, Arpad von Moers, N. A. V. M. Knoers, László Sztriha, Rudolf Korinthenberg, PCH Consortium, William B. Dobyns, Frank Baas, Bwee Tien Poll‐The

    Vydáno 2010
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