Resultados da busca - Sandeep Jayawant

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  1. 1
    Juvenile Myasthenia Gravis: A Paediatric Perspective

    Juvenile Myasthenia Gravis: A Paediatric Perspective por Maria F. Finnis, Sandeep Jayawant

    Publicado em 2011
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  2. 2
    Ephedrine treatment in congenital myasthenic syndrome due to mutations in <i>DOK7</i>

    Ephedrine treatment in congenital myasthenic syndrome due to mutations in <i>DOK7</i> por Daniel Lashley, Jacqueline Palace, Sandeep Jayawant, S. Robb, David Beeson

    Publicado em 2010
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  3. 3
    Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

    Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes por Pedro M. Rodríguez Cruz, Jacqueline Palace, H. Ramjattan, Sandeep Jayawant, S. Robb, David Beeson

    Publicado em 2015
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  4. 4
    Early use of high‐dose riboflavin in a case of Brown–Vialetto–Van Laere syndrome

    Early use of high‐dose riboflavin in a case of Brown–Vialetto–Van Laere syndrome por Geetha Anand, Hasan Nadeem, Sathiya S K Jayapal, Zilla Huma, Tariq Ali, Jeremy Hull, Edward Blair, Tony McShane, Sandeep Jayawant

    Publicado em 2011
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  5. 5
    Subdural haemorrhages in infants: population based study

    Subdural haemorrhages in infants: population based study por Sandeep Jayawant, Alana Resmini Rawlinson, Frances Gibbon, Jackie F. Price, Joann Schulte, P M Sharples, J R Sibert, Alison Kemp

    Publicado em 1998
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  6. 6
    Clinical features of the DOK7 neuromuscular junction synaptopathy

    Clinical features of the DOK7 neuromuscular junction synaptopathy por Jacqueline Palace, Daniel Lashley, John Newsom–Davis, Judith Cossins, Susan Maxwell, Roger H. Kennett, Sandeep Jayawant, Yuji Yamanashi, D Beeson

    Publicado em 2007
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  7. 7
    Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis

    Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis por Pedro M. Rodríguez Cruz, Michal Al-Hajjar, Saif Huda, Leslie Jacobson, Mark Woodhall, Sandeep Jayawant, Camilla Buckley, David Hilton‐Jones, David Beeson, Angela Vincent, Maria Isabel Leite, Jacqueline Palace

    Publicado em 2015
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  8. 8
    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies por Alistair T. Pagnamenta, Stefano Lise, Victoria Harrison, Helen Stewart, Sandeep Jayawant, Gerardine Quaghebeur, Alexander T. Deng, V. Murphy, Elham Sadighi Akha, Andy Rimmer, Iain Mathieson, Samantha J.L. Knight, Usha Kini, Jenny C. Taylor, David A. Keays

    Publicado em 2011
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  9. 9
    Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

    Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 por Lauren M. Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, Jonathan P. Williams, Conceição Bettencourt, Jennifer Lickiss, Sandeep Jayawant, Katherine A. Fawcett, Samuel Clokie, Yvonne Wallis, Penny Clouston, David Sims, Henry Houlden, Esther B. E. Becker, Andrea H. Németh

    Publicado em 2017
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  10. 10
    Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

    Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain por Clare V. Logan, Judith Cossins, Pedro M. Rodríguez Cruz, David Parry, Susan Maxwell, Pilar Martínez‐Martínez, Joey Riepsaame, Zakia A. Abdelhamed, Alice V. R. Lake, María Morán, S. Robb, Gabriel Chow, Caroline A. Sewry, Philip M. Hopkins, Eamonn Sheridan, Sandeep Jayawant, Jacqueline Palace, Colin A. Johnson, David Beeson

    Publicado em 2015
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  11. 11
    <i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy

    <i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy por Ricardo Parolin Schnekenberg, Emma Perkins, Jack W. Miller, Wayne I. L. Davies, Maria Cristina D’Adamo, Mauro Pessia, Katherine A. Fawcett, David Sims, Elodie Gillard, K Hudspith, Paul Skehel, Jonathan Williams, Mary O’Regan, Sandeep Jayawant, Rosalind J Jefferson, Sarah Hughes, Andrea Lustenberger, Jiannis Ragoussis, M. T. Jackson, Stephen J. Tucker, Andrea H. Németh

    Publicado em 2015
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  12. 12
    Muscle histology vs MRI in Duchenne muscular dystrophy

    Muscle histology vs MRI in Duchenne muscular dystrophy por Maria Kinali, Virginia Arechavala‐Gomeza, Sebahattin Çirak, Alan Glover, Michela Guglieri, L. Feng, Kieren G. Hollingsworth, David M. Hunt, Heinz Jungbluth, Helen Roper, Rosaline C. M. Quinlivan, Jayaprakash Gosalakkal, Sandeep Jayawant, Amélie Nadeau, L. Hughes-Carre, A. Manzur, Eugenio Mercuri, Jennifer E. Morgan, Volker Straub, K. Bushby, C. Sewry, Mary Rutherford, Francesco Muntoni

    Publicado em 2011
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  13. 13
    Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice

    Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice por Alistair T. Pagnamenta, Pierre Heemeryck, Hilary C. Martin, Christophe Bosc, Leticia Peris, Ivy Uszynski, Sylvie Gory‐Fauré, Simon Couly, Charu Deshpande, Ata Siddiqui, Alaa A. Elmonairy, Sandeep Jayawant, Sarada Murthy, Ian Walker, Lucy Loong, Peter Bauer, Frédérique Vossier, Éric Denarier, Tangui Maurice, Emmanuel Barbier, Jean‐Christophe Deloulme, Jenny C. Taylor, Edward Blair, Annie Andrieux, Marie‐Jo Moutin

    Publicado em 2019
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  14. 14
    Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

    Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model por Andrea H. Németh, Alexandra Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B. E. Becker, Katarzyna D. Bera, Morag Shanks, Lorna Gregory, David Buck, M. Zameel Cader, Kevin Talbot, Rajith de Silva, Nicholas Fletcher, Rob Hastings, Sandeep Jayawant, Patrick J. Morrison, Paul Worth, A. Malcolm R. Taylor, John Tolmie, Mary O’Regan, Ruth A. Valentine, Emily Packham, Julie Evans, A Seller, Jiannis Ragoussis

    Publicado em 2013
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  15. 15
    The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

    The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations por Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, Mohammad Yahya Vahidi Mehrjardi, Gabriel Chow, Aisling Carr, Adnan Manzur, S. Robb, Pinki Munot, Weiwei Liu, Siddharth Banka, Harry Fraser, Christian de Goede, Edmar Zanoteli, Umbertina Conti Reed, Abigail Sage, M. Gratacós, Alfons Macaya, Marina Dusl, Jan Senderek, Ana Töpf, Monika Hofer, Ravi Knight, Sithara Ramdas, Sandeep Jayawant, Hanns Lochmüller, Jacqueline Palace, David Beeson

    Publicado em 2019
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  16. 16
    Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

    Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development por Stefano Lise, Yvonne L. Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Šuminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M. Zameel Cader, Sarah Hughes, Richard Armstrong, Alexander Kanapin, Andrew J. Rimmer, Gerton Lunter, Iain Mathieson, Jean‐Baptiste Cazier, David Buck, Jenny C. Taylor, David Bentley, Gil McVean, Peter Donnelly, Samantha J.L. Knight, M. T. Jackson, Jiannis Ragoussis, Andrea H. Németh

    Publicado em 2012
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  17. 17
    Retrospective natural history of thymidine kinase 2 deficiency

    Retrospective natural history of thymidine kinase 2 deficiency por Caterina Garone, Robert W. Taylor, A. Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez‐González, Julie Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M.I. Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez‐Gómez, Sandeep Jayawant, Neil D Thomas, Adnan Y. Manzur, Karin Kleinsteuber, Miguel A. Martı́n, Timothy Kerr, Gráinne S. Gorman, Ewen W. Sommerville, Patrick F. Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga‐Garrido, Jana Domínguez‐Carral, C. Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua Kriger, Robert Schoenaker, Bruce Lubotsky Levin, John L.P. Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano

    Publicado em 2018
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  18. 18
    Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

    Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder por W. G. Leen, Jörg Klepper, Marcel M. Verbeek, Maike Leferink, Tom Hofste, Baziel G.M. van Engelen, Ron A. Wevers, Todd M. Arthur, Nadia Bahi‐Buisson, Diana Ballhausen, Jolita Bekhof, Patrick Van Bogaert, Inês Carrilho, B. Chabrol, Mike Champion, James G. Coldwell, Peter T. Clayton, Elizabeth Donner, Athanasios Evangeliou, Friedrich Ebinger, K Farrell, Rob Forsyth, Christian G E L De Goede, S. Groß, Stephanie Grünewald, Hans Holthausen, Sandeep Jayawant, Katherine Lachlan, Vincent Laugel, Kathleen A. Leppig, Ming Lim, G.M.S. Mancini, Adela Della Marina, Loreto Martorell, Joe McMenamin, Marije Meuwissen, Helen Mundy, Nils‐Otto Nilsson, Axel Panzer, Bwee Tien Poll‐The, C. Rauscher, C. M. R. Rouselle, Inger Sandvig, T Scheffner, E. Sheridan, N. B. Simpson, Peter Sýkora, RJ Tomlinson, J Q Trounce, David Webb, Bernhard Weschke, Hans Scheffer, Michèl A.A.P. Willemsen

    Publicado em 2010
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