Søgeresultater - Janice M. Fletcher

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  1. 1
    Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

    Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses af Jennifer T. Saville, Belinda K. McDermott, Janice M. Fletcher, Maria Fuller

    Udgivet 2018
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  2. 2
    Inhibition of Glycosaminoglycan Synthesis Using Rhodamine B in a Mouse Model of Mucopolysaccharidosis Type IIIA

    Inhibition of Glycosaminoglycan Synthesis Using Rhodamine B in a Mouse Model of Mucopolysaccharidosis Type IIIA af Ainslie L.K. Derrick‐Roberts, Belinda J. Thomas, Ashley Wilkinson, Janice M. Fletcher, Sharon Byers

    Udgivet 2006
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  3. 3
    Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

    Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II af M M Hermans, Dik van Leenen, Marian A. Kroos, Clare Beesley, Ans T. van der Ploeg, Hitoshi Sakuraba, Ron A. Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice M. Fletcher, N. U. Bosshard, Lina Basel‐Vanagaite, G. T. N. Besley, Arnold Reuser

    Udgivet 2003
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  4. 4
    Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

    Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing af Sarah E. Calvo, Alison G. Compton, Steven G. Hershman, Sze Chern Lim, Daniel S. Lieber, Elena J. Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B. Jaffe, John Christodoulou, Janice M. Fletcher, Damien L. Bruno, Jack Goldblatt, Salvatore DiMauro, David R. Thorburn, Vamsi K. Mootha

    Udgivet 2012
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  5. 5
    Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

    Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases af Saskia Koene, Richard J. Rodenburg, Marjo S. van der Knaap, Michèl A.A.P. Willemsen, Wolfgang Sperl, Vincent Laugel, Elsebet Østergaard, Mark A. Tarnopolsky, Miguel A. Martı́n, Victoria Nesbitt, Janice M. Fletcher, Simon Edvardson, Vincent Procaccio, Abdelhamid Slama, Lambert P. W. J. den van Heuvel, J.A.M. Smeitink

    Udgivet 2012
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  6. 6
    Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

    Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage af Gabor E. Linthorst, Alessandro P. Burlina, Franco Cecchi, Timothy M. Cox, Janice M. Fletcher, Ulla Feldt‐Rasmussen, Roberto Giugliani, Carla E. M. Hollak, Gunnar Houge, Derralynn Hughes, Iikka Kantola, Robin Lachmann, Mónica López Sánchez, Alberto Ortíz, Rossella Parini, Alberto Rivera, Arndt Rolfs, Uma Ramaswami, Einar Svarstad, Camilla Tøndel, Anna Tylki‐Szymańska, Bojan Vujkovac, S. Waldek, Michael L. West, Frank Weidemann, Atul Mehta

    Udgivet 2012
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  7. 7
    Deleterious variants in<i>CRLS1</i>lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

    Deleterious variants in<i>CRLS1</i>lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease af Richard G. Lee, Shanti Balasubramaniam, Maike Stentenbach, Thomas Kralj, Tim McCubbin, Benjamin Scott Padman, Janine Smith, Lisa G. Riley, Archana Priyadarshi, Liuyu Peng, Madison Nuske, Richard Webster, Ken Peacock, Philip A. Roberts, Zornitza Stark, Gabrielle Lemire, Yoko Itō, Kym M. Boycott, Michael T. Geraghty, Jan B. van Klinken, Sacha Ferdinandusse, Ying Zhou, Rebecca Walsh, Esteban Marcellin, David R. Thorburn, Tony Rosciolli, Janice M. Fletcher, Oliver Rackham, Frédéric M. Vaz, Gavin E. Reid, Aleksandra Filipovska

    Udgivet 2022
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  8. 8
    Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus

    Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus af David Moreno-Martínez, Patrício Aguiar, Christiane Auray‐Blais, Michael Beck, Daniel G. Bichet, Alessandro P. Burlina, David E. C. Cole, Perry Elliott, Ulla Feldt‐Rasmussen, Sandro Feriozzi, Janice M. Fletcher, Roberto Giugliani, Ana Jovanović, C. Kampmann, Mirjam Langeveld, Olivier Lidove, Aleš Linhart, Michael Mauer, James Moon, Alison Muir, Albina Nowak, João Paulo Oliveira, Alberto Ortíz, Guillem Pintos‐Morell, Juan Politei, Paula Rozenfeld, Raphael Schiffmann, Einar Svarstad, Andrew Talbot, Mark Thomas, Camilla Tøndel, David G. Warnock, Michael L. West, Derralynn Hughes

    Udgivet 2021
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  9. 9
    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus af Ann E. Frazier, Alison G. Compton, Yoshihito Kishita, Daniella H. Hock, AnneMarie E. Welch, Sumudu S. C. Amarasekera, Rocío Rius, Luke E. Formosa, Atsuko Imai‐Okazaki, David Francis, Min Wang, Nicole J. Lake, Simone Tregoning, Jafar S. Jabbari, Alexis Lucattini, Kazuhiro R. Nitta, Akira Ohtake, Kei Murayama, David J. Amor, George McGillivray, Flora Y. Wong, Marjo S. van der Knaap, R. Jeroen Vermeulen, Esko Wiltshire, Janice M. Fletcher, Barry Lewis, Gareth Baynam, Carolyn Ellaway, Shanti Balasubramaniam, Kaustuv Bhattacharya, Mary-Louise Freckmann, Susan Arbuckle, Michael Rodriguez, Ryan J. Taft, Simon Sadedin, Mark J. Cowley, André E. Minoche, Sarah E. Calvo, Vamsi K. Mootha, Michael T. Ryan, Yasushi Okazaki, David A. Stroud, Cas Simons, John Christodoulou, David R. Thorburn

    Udgivet 2020
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  10. 10
    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i> af Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi, Stéphan Saïkali, Luan T. Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M.L. van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T. Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L. Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L. Bonkowsky, Coriene E. Catsman‐Berrevoets, Pedro Soares Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak‐Białek, Ingeborg Krägeloh‐Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atık, Brenda Banwell, William Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klára Brožová, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice M. Fletcher, María Eugenia García, Paolo Gasparini, Janina Gburek‐Augustat, Dolores González Morón, Aline I. Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M. Hobson, A. Micheil Innes, Marcelo Kauffman, Susan M. Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, W. McClintock, Meriel McEntagart, Fiona McKenzie, Serge B. Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando Montón, Sébastien Moutton, Raymond P. Murphy, Miriam Nickel, Hüseyin Önay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Hélio Pedro, Sandra Pekić, M. Pineda, Amy Pizzino, Barbara Plecko, Bwee Tien Poll‐The, Vera Popović, D. Rating, Marie‐France Rioux, N. Rodríguez-Espinosa, Anne Ronan, John R. Østergaard, Elsa Rossignol, Rocío Sánchez‐Carpintero, Anna Schossig, Nesrin Şenbil, Laura Roos, Cathy A. Stevens, Matthis Synofzik, László Sztriha

    Udgivet 2020
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