检索结果 - Shanti Balasubramaniam

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  1. 1
    Riboflavin metabolism: role in mitochondrial function

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

    出版 2020
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  2. 2
    Disorders of riboflavin metabolism

    Disorders of riboflavin metabolism 由 Shanti Balasubramaniam, John Christodoulou, Shamima Rahman

    出版 2019
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  3. 3
    Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management

    Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management 由 Senthil Senniappan, Shanti Balasubramaniam, Chela James, Khalid Hussain

    出版 2012
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  4. 4
    Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

    Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function 由 Magnus Bjursell, Henk J. Blom, Jordi Asin Cayuela, Martin Engvall, Nicole Lesko, Shanti Balasubramaniam, Göran Brandberg, Maria Halldin, Maria Falkenberg, Cornelis Jakobs, Desirée E.C. Smith, Eduard A. Struys, Ulrika von Döbeln, Claes M. Gustafsson, Joakim Lundeberg, Anna Wedell

    出版 2011
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  5. 5
    The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

    The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease 由 Lisa G. Riley, Mark J. Cowley, Velimir Gayevskiy, André E. Minoche, Clare Puttick, David R. Thorburn, Rocío Rius, Alison G. Compton, Minal Menezes, Kaustuv Bhattacharya, David Coman, Carolyn Ellaway, Ian E. Alexander, Louisa Adams, Maina Kava, Jacqui Robinson, Carolyn M. Sue, Shanti Balasubramaniam, John Christodoulou

    出版 2020
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  6. 6
    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 由 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

    出版 2022
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  7. 7
    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 由 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

    出版 2020
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  8. 8
    Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

    Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases 由 Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed Al‐Owain, Hamad Alzaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K. Chung, Roberto Colombo, Niklas Darín, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grünewald, Tobias B. Haack, Peter M. van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Réka Kovács-Nagy, Zita Krūmiņa, Elena Martín‐Hernández, Johannes A. Mayr, Patricia McClean, Linda De Meırleır, K Naess, Lock Hock Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa G. Riley, Benjamin Röeben, Frank Rutsch, René Santer, Manuel Schiff, Martine Seders, Sílvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W. Taylor, Joanna Trubicka, Konstantinos Tsiakas, Özlem Ünal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Éva Morava, Ewa Pronicka, Ron A. Wevers, Arjan Pm de Brouwer, Saskia B. Wortmann

    出版 2017
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  9. 9
    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder 由 Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek‐Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas‐Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben‐Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter M. Anderson, Marcus Annable, Elizabeth Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Yi Qian

    出版 2016
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