Výsledky vyhledávání - Joy Yaplito‐Lee

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  1. 1
    Riboflavin metabolism: role in mitochondrial function

    Riboflavin metabolism: role in mitochondrial function Autor Shanti Balasubramaniam, Joy Yaplito‐Lee

    Vydáno 2020
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  2. 2
    Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

    Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations Autor James Pitt, Heidi Peters, Avihu Boneh, Joy Yaplito‐Lee, Stefanie Wieser, Katrin Hinderhofer, David H. Johnson, Johannes Zschocke

    Vydáno 2014
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  3. 3
    ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

    ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism Autor Heidi Peters, Nicole E. Buck, Ronald J. A. Wanders, Jos P.N. Ruiter, Hans R. Waterham, Janet Koster, Joy Yaplito‐Lee, Sacha Ferdinandusse, James Pitt

    Vydáno 2014
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  4. 4
    SURF1 deficiency: a multi-centre natural history study

    SURF1 deficiency: a multi-centre natural history study Autor Yehani Wedatilake, Ruth M. Brown, Robert McFarland, Joy Yaplito‐Lee, Andrew A. M. Morris, Mike Champion, Phillip E. Jardine, Antonia Clarke, David R. Thorburn, Robert W. Taylor, John M. Land, Katharine Forrest, Angus Dobbie, Louise Simmons, Erlend T. Aasheim, David Ketteridge, Donncha Hanrahan, Anupam Chakrapani, Garry K. Brown, Shamima Rahman

    Vydáno 2013
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  5. 5
    Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

    Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood Autor Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross, Ramona Salvarinova, Joy Yaplito‐Lee, Saikat Santra, Casper Shyr, Gabriella Horváth, Patrice Eydoux, Anna Lehman, Virginie Bernard, Theresa Newlove, Henry Ukpeh, Anupam Chakrapani, Mary Anne Preece, Sarah Ball, James Pitt, Hilary Vallance, Marion B. Coulter-Mackie, Hien Anh Thi Nguyen, Linhua Zhang, Amit P. Bhavsar, Graham Sinclair, Abdul Waheed, Wyeth W. Wasserman, Sylvia Stöckler‐Ipsiroglu

    Vydáno 2014
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  6. 6
    De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

    De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea Autor Fan Xia, Matthew N. Bainbridge, Tiong Yang Tan, Michael F. Wangler, Angela E. Scheuerle, Elaine H. Zackai, Margaret Harr, V. Reid Sutton, Roopa L. Nalam, Wenmiao Zhu, Margot Nash, Monique M. Ryan, Joy Yaplito‐Lee, Jill V. Hunter, Matthew A. Deardorff, Samantha Penney, Arthur L. Beaudet, Sharon E. Plon, Eric Boerwinkle, James R Lupski, Christine M. Eng, Donna M. Muzny, Yaping Yang, Richard A. Gibbs

    Vydáno 2014
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  7. 7
    A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

    A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Autor Zornitza Stark, Tiong Yang Tan, Belinda Chong, Gemma R. Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J. Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G. Ekert, Christiane Theda, Paul A. James, Joy Yaplito‐Lee, Monique M. Ryan, Richard J. Leventer, Emma Creed, Ivan Macciocca, Katrina M. Bell, Alicia Oshlack, Simon Sadedin, Peter Georgeson, Charlotte Anderson, Natalie Thorne, Clara Gaff, Susan M. White

    Vydáno 2016
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  8. 8
    CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

    CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder Autor Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Søren W. Gersting, Ania C. Muntau, Aleksandar Raković, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio‐Gozalbo, Elżbieta Chruściel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara D.M. van Karnebeek, Yolanda Lillquist, Thomas Lücke, Katrin Õunap, Riina Žordania, Joy Yaplito‐Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frédéric M. Vaz, Mia L. Pras‐Raves, Rafał Płoski, Ewa Pronicka, Christine Klein, Michèl A.A.P. Willemsen, Arjan P.M. de Brouwer, Holger Prokisch, Nicholas Katsanis, Ron A. Wevers

    Vydáno 2015
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  9. 9
    ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

    ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients Autor Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, José E. Abdenur, Füsun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O’Connor, Gregory M. Cooper, Rudy Van Coster, Laurie Demmer, Luísa Diogo, Alexander Fay, Can Fıçıcıoğlu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip James, Daniel Katz, Liesbeth Keldermans, Maria Kibæk, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito‐Lee, Deborah A. Nickerson, Heidi Peters, Valérie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan Sparks, Pamela Trapane, Amarilis Sanchez‐Valle, Éric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy Yang, Gert Matthijs, Hudson H. Freeze

    Vydáno 2016
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  10. 10
    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency Autor Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Lara Abulhoul, Stephanie Grünewald, Irina Anselm, Hatem Azzouz, Drago Bratkovic, Arjan de Brouwer, Ben C.J. Hamel, Tjitske Kleefstra, Helger G. Yntema, Jaume Campistol, Marta Vilaseca, David Cheillan, Marc D’Hooghe, Luísa Diogo, Paula Garcia, Carla Valongo, Maria José Fonseca, Suzanna G.M. Frints, Bridget Wilcken, Sigrun von der Haar, Hanne Meijers‐Heijboer, Floris C. Hofstede, Diana Johnson, Sarina G. Kant, Laurence Lion‐François, G. Pitelet, Nicola Longo, J A Maat-Kievit, João Monteiro, Arnold Münnich, Ania C. Muntau, Marie‐Cécile Nassogne, Hitoshi Osaka, Katrin Õunap, Jean-Marc Pinard, Susana Quijano‐Roy, I Poggenburg, Nicola Poplawski, Omar Abdul‐Rahman, Antònia Ribes, Ángela Arias, Joy Yaplito‐Lee, Andreas Schulze, Charles E. Schwartz, Susanne Schwenger, G. Soares, Yves Sznajer, Vassili Valayannopoulos, Hilde Van Esch, Stephan Waltz, Mirjam M. C. Wamelink, Petra J. W. Pouwels, Abdellatif Errami, Marjo S. van der Knaap, C. Jakobs, Grazia M.S. Mancini, Gajja S. Salomons

    Vydáno 2013
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