Kết quả tìm kiếm - Kristi Jones

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  1. 1
    The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review

    The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review Bằng Kristi Jones

    Được phát hành 2001
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    Revisão
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  2. 2
    Incidence of Duchenne muscular dystrophy in the modern era; an Australian study

    Incidence of Duchenne muscular dystrophy in the modern era; an Australian study Bằng Didu Kariyawasam, Arlene D’Silva, David Mowat, Jacqui Russell, Hugo Sampaio, Kristi Jones, Peter J. Taylor, Michelle A. Farrar

    Được phát hành 2022
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    Artigo
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  3. 3
    Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

    Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation Bằng Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, Gül Serdaroğlu, Esra Ataman, Maya Chopra, S. García García, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias R. Baumgartner, Cecilia Giunta

    Được phát hành 2011
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    Artigo
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  4. 4
    Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

    Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy Bằng Alison G. Compton, Douglas E. Albrecht, Jane T. Seto, Sandra T. Cooper, Biljana Ilkovski, Kristi Jones, Daniel Challis, David Mowat, Barbara Ranscht, Melanie Bahlo, Stanley C. Froehner, Kathryn N. North

    Được phát hành 2008
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    Artigo
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  5. 5
    Nusinersen for SMA: expanded access programme

    Nusinersen for SMA: expanded access programme Bằng Michelle A. Farrar, Hooi Ling Teoh, Kate A. Carey, Anita Cairns, Robin Forbes, Karen Herbert, Sandra Holland, Kristi Jones, Manoj P. Menezes, Margot Morrison, Kate Munro, Daniella Villano, Richard Webster, Ian Woodcock, Eppie M. Yiu, Hugo Sampaio, Monique M. Ryan

    Được phát hành 2018
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    Artigo
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  6. 6
    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant

    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant Bằng Sarah A. Sandaradura, Adam Bournazos, Amali Mallawaarachchi, Beryl B. Cummings, Leigh B. Waddell, Kristi Jones, Christopher Troedson, Annapurna Sudarsanam, Benjamin M. Nash, Gregory B. Peters, Elizabeth M. Algar, Daniel G. MacArthur, Kathryn N. North, Susan Brammah, Amanda Charlton, Nigel G. Laing, Meredith Wilson, Mark R. Davis, Sandra T. Cooper

    Được phát hành 2017
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    Artigo
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  7. 7
    Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

    Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone Bằng Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay Ganesh, Roula Ghaoui, Kristi Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O’Donnell‐Luria, Gina O’Grady, Ikeoluwa Osei‐Owusu, Haloom Rafehi, Stephen Reddel, Richard Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper

    Được phát hành 2024
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    Artigo
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  8. 8
    The Clinical Outcome Study for dysferlinopathy

    The Clinical Outcome Study for dysferlinopathy Bằng Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, M. James, K. Bettinson, U. Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana Bharucha‐Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John Day, Jordi Díaz‐Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori‐Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber‐Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, Maggie C. Walter, Kate Bushby

    Được phát hành 2016
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    Artigo
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  9. 9
    Ataluren treatment of patients with nonsense mutation dystrophinopathy

    Ataluren treatment of patients with nonsense mutation dystrophinopathy Bằng K. Bushby, Richard S. Finkel, Brenda Wong, Richard J. Barohn, Craig Campbell, Giacomo P. Comi, Anne M. Connolly, John Day, Kevin M. Flanigan, Nathalie Goemans, Kristi Jones, Eugenio Mercuri, Rosaline C. M. Quinlivan, J. Ben Renfroe, Barry S. Russman, Monique M. Ryan, M. Tulinius, Thomas Voït, Steven A. Moore, H. Lee Sweeney, Richard T. Abresch, Kim L. Coleman, Michelle Eagle, Julaine Florence, Eduard Gappmaier, Allan M. Glanzman, Erik Henricson, Jay Barth, Gary Elfring, A. Reha, Robert J. Spiegel, Michael W. O'donnell, Stuart W. Peltz, Craig M. McDonald

    Được phát hành 2014
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    Artigo
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  10. 10
    Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy

    Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy Bằng Craig Campbell, Richard J. Barohn, Enrico Bertini, B. Chabrol, Giacomo P. Comi, Basil T. Darras, Richard S. Finkel, Kevin M. Flanigan, Nathalie Goemans, Susan T. Iannaccone, Kristi Jones, Janbernd Kirschner, Jean K. Mah, Katherine D. Mathews, Craig M. McDonald, Eugenio Mercuri, Yoram Nevo, Yann Péréon, J. Ben Renfroe, Monique M. Ryan, Jacinda B. Sampson, Ulrike Schara, Thomas Sejersen, Kathryn Selby, M. Tulinius, Juan J. Vílchez, Thomas Voït, L. J. Wei, Brenda Wong, Gary Elfring, Marcio Ferreira de Souza, Joseph McIntosh, Panayiota Trifillis, Stuart W. Peltz, Francesco Muntoni

    Được phát hành 2020
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  11. 11
    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients Bằng Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier

    Được phát hành 2010
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    Artigo
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  12. 12
    Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

    Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials Bằng Jordi Díaz‐Manera, Roberto Fernández‐Torrón, Jaume Llauger, M. James, Anna Mayhew, Fiona E. Smith, U. Moore, Andrew M. Blamire, Pierre G. Carlier, Laura Rufibach, Plavi Mittal, Michelle Eagle, Marni Jacobs, Tim Hodgson, Dorothy Wallace, Louise Ward, Mark D. Smith, Roberto Stramare, Alessandro Rampado, Noriko Sato, Takeshi Tamaru, Bruce Harwick, Susana Rico Gala, Suna Turk, Eva Coppenrath, Glenn Foster, David Bendahan, Yann Le Fur, Stanley T. Fricke, Hansel J. Otero, Sheryl Foster, Anthony Peduto, A. Sawyer, H. Hilsden, Hanns Lochmüller, Ulrike Grieben, Simone Spuler, Carolina Tesi Rocha, John Day, Kristi Jones, Diana Bharucha‐Goebel, Emmanuelle Salort‐Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber‐Katz, Maggie C. Walter, Carmen Paradas, Jean‐Yves Hogrel, Tanya Stojkovic, Shin’ichi Takeda, Madoka Mori‐Yoshimura, Elena Bravver, Susan Sparks, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub

    Được phát hành 2018
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    Artigo
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  13. 13
    Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

    Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Bằng Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher Barnett, Jason Pinner, Sarah A. Sandaradura, Michael F. Buckley, Emma Krzesinski, M. De Silva, Gemma R. Brett, Kirsten Boggs, David Mowat, Edwin P. Kirk, Lesley C. Adès, Lauren Akesson, David J. Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, Alessandra Bray, Natasha J. Brown, Cheng Yee Chan, Belinda Chong, Corrina Cliffe, Martin B. Delatycki, Matthew Edwards, George Elakis, Michael Fahey, Andrew Fennell, Lindsay Fowles, Lyndon Gallacher, Megan Higgins, Katherine B. Howell, L. Hunt, Matthew F. Hunter, Kristi Jones, Sarah King, Smitha Kumble, Sarah Lang, Maelle Le Moing, Alan Ma, Dean Phelan, Michael C. Quinn, A. Mark Richards, Christopher M. Richmond, Jessica R. Riseley, Jonathan Rodgers, Rani Sachdev, Simon Sadedin, Luregn J. Schlapbach, Janine Smith, Amanda Springer, Natalie B. Tan, Tiong Yang Tan, Suzanna L. Temple, Christiane Theda, Anand Vasudevan, Susan M. White, Alison Yeung, Ying Zhu, Melissa Martyn, Stephanie Best, Tony Roscioli, John Christodoulou, Zornitza Stark

    Được phát hành 2020
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    Artigo
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  14. 14
    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial Bằng Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S. Finkel, Kevin M. Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kamińska, Janbernd Kirschner, Francesco Muntoni, A. Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B. Shieh, H. Lee Sweeney, Haluk Topaloğlu, M. Tulinius, Juan J. Vílchez, Thomas Voït, Brenda Wong, Gary Elfring, Hans Kröger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Ferreira de Souza, Robert J. Spiegel, Stuart W. Peltz, Eugenio Mercuri, Lindsay N. Alfano, Michelle Eagle, M. James, Linda Lowes, Anna Mayhew, Elena Mazzone, Leslie Nelson, Kristy Rose, Hoda Abdel‐Hamid, Susan Apkon, Richard J. Barohn, Enrico Bertini, Clemens Bloetzer, Lausanne Canton de Vaud, Russell J. Butterfield, B. Chabrol, Jong‐Hee Chae, Daehak-ro Jongno-gu, Giacomi Pietro Comi, Basil T. Darras, Jahannaz Dastgir, Isabelle Desguerre, Raúl G. Escobar, Erika Finanger, Michela Guglieri, Imelda Hughes, Susan T. Iannaccone, Kristi Jones, Peter Karachunski, Martin Kudr, Timothy Lotze, Jean K. Mah, Katherine D. Mathews, Yoram Nevo, Julie Parsons, Yann Péréon, Alexandra Prufer de Queiroz Campos Araújo, J. Ben Renfroe, Maria Bernadete Dutra de Resende, Monique M. Ryan, Kathryn Selby, Gihan Tennekoon, Giuseppe Vita

    Được phát hành 2017
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    Artigo
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  15. 15
    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 Bằng Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher Barnett, Troy A. Becker, Shay Ben‐Shachar, Débora Romeo Bertola, Jaishri O. Blakeley, Emma Burkitt‐Wright, Alison Callaway, Melissa Crenshaw, Karin Soares Cunha, Mitch Cunningham, Daniela D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrèe, Radhika Dhamija, Marica Eoli, D. Gareth Evans, Patricia Galvin‐Parton, Jaya K. George‐Abraham, Karen W. Gripp, José Guevara-Campos, Neil A. Hanchard, Concepción Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi Jones, Beth Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy J. Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth N. Rosenbaum, Karol Rubin, Laura Russell, Lane Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Hélène Verhelst, Margaret R. Wallace, Yoon Sim Yap, Elaine H. Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martín, Bruce R. Korf, Eric Legius, Ludwine Messiaen

    Được phát hành 2017
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    Artigo
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  16. 16
    Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

    Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation Bằng Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary A. Bellus, Lynne M. Bird, Maria Blazo, Leah W. Burke, Ashley Cannon, Felicity Collins, Colette DeFilippo, Ellen Denayer, M. Cristina Digilio, Shelley K. Dills, Laura Dosa, Robert Greenwood, Cristin Griffis, Punita Gupta, Rachel K. Hachen, Concepción Hernández-Chico, Sandra Janssens, Kristi Jones, Justin T. Jordan, Pekka Kannus, Bruce R. Korf, Andrea M. Lewis, Robert Listernick, Fortunato Lonardo, Maurice J. Mahoney, Mayra Martinez Ojeda, Marie McDonald, Carey McDougall, Nancy J. Mendelsohn, David T. Miller, Mari Mori, Rianne Oostenbrink, Sébastien Perreault, Mary Ella Pierpont, Carmelo Piscopo, Dinel Pond, Linda M. Randolph, Katherine A. Rauen, Surya P. Rednam, S. Lane Rutledge, Veronica Saletti, G. Bradley Schaefer, Elizabeth K. Schorry, Daryl A. Scott, Andrea Shugar, Elizabeth Siqveland, Lois J. Starr, Ashraf Syed, Pamela Trapane, Nicole J. Ullrich, Emily Wakefield, Laurence E. Walsh, Michael F. Wangler, Elaine H. Zackai, Kathleen Claes, Katharina Wimmer, Rick van Minkelen, Alessandro De Luca, Yolanda Martín, Eric Legius, Ludwine Messiaen

    Được phát hành 2018
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    Artigo
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  17. 17
    Congenital Titinopathy: Comprehensive characterization and pathogenic insights

    Congenital Titinopathy: Comprehensive characterization and pathogenic insights Bằng Emily C. Oates, Kristi Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair Corbett, Monique M. Ryan, Gina O’Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, M. Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, M. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James J. Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola Foulds, Marjorie Illingworth, Sian Ellard, Catriona McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, C. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

    Được phát hành 2018
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