Search Results - Belinda Chong

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  1. 1
    Population screening and cascade testing for carriers of SMA

    Population screening and cascade testing for carriers of SMA by Melanie Smith, Vanessa Calabro, Belinda Chong, Nicole Gardiner, Shannon Cowie, Desirée du Sart

    Published 2007
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  2. 2
    Assessing the Asynchrony Event Based on the Ventilation Mode for Mechanically Ventilated Patients in ICU

    Assessing the Asynchrony Event Based on the Ventilation Mode for Mechanically Ventilated Patients in ICU by Muhamad Sauki, Nur Sa’adah, Damanhuri, Nor Salwa, Othman, Nor Azlan, Chiew Meng, Belinda Chong, Chiew, Yeong Shiong, Mat Nor, Mohd Basri

    Published 2021
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  3. 3
    Idiopathic Hyperphosphatasia and <i>TNFRSF11B</i> Mutations: Relationships Between Phenotype and Genotype

    Idiopathic Hyperphosphatasia and <i>TNFRSF11B</i> Mutations: Relationships Between Phenotype and Genotype by Belinda Chong, Madhuri Hegde, Matthew Fawkner, Scott Simonet, Hamilton Cassinelli, Mahmut Çöker, John А. Kanis, J. Seidel, Cristina Tau, Beyhan Tüysüz, Bilgin Yüksel, Donald R. Love, Tim Cundy

    Published 2003
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  4. 4
    A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

    A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis by Tiong Yang Tan, Sebastian Lunke, Belinda Chong, Dean Phelan, Miriam Fanjul‐Fernández, Justine E. Marum, Vanessa Siva Kumar, Zornitza Stark, Alison Yeung, Natasha J. Brown, Chloe Stutterd, Martin B. Delatycki, Simon Sadedin, Melissa Martyn, Ilias Goranitis, Natalie Thorne, Clara Gaff, Susan M. White

    Published 2019
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  5. 5
    Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

    Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review by Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul‐Fernández, Justine E. Marum, Dean Phelan, Lynn Pais, Susan M. White, Sebastian Lunke, Tiong Yang Tan

    Published 2020
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  6. 6
    Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

    Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy by Maie Walsh, Katrina M. Bell, Belinda Chong, Emma Creed, Gemma R. Brett, Kate Pope, Natalie Thorne, Simon Sadedin, Peter Georgeson, Dean Phelan, Timothy Day, Jessica Taylor, Adrienne Sexton, Paul J. Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara Gaff, Alicia Oshlack, Eppie M. Yiu, Paul A. James, Zornitza Stark, Monique M. Ryan

    Published 2017
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  7. 7
    Meeting the challenges of implementing rapid genomic testing in acute pediatric care

    Meeting the challenges of implementing rapid genomic testing in acute pediatric care by Zornitza Stark, Sebastian Lunke, Gemma R. Brett, Natalie B. Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean Phelan, Belinda Chong, Miriam Fanjul‐Fernández, Justine E. Marum, Matthew F. Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R. Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Yang Tan, Clara Gaff, Susan M. White

    Published 2018
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  8. 8
    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions by Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R. Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J. Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J. Robertson, Aaron Robinson, Ivan Macciocca, Simon Sadedin, Katrina M. Bell, Alicia Oshlack, Peter Georgeson, Natalie Thorne, Clara Gaff, Susan M. White

    Published 2017
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  9. 9
    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 by 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

    Published 2016
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  10. 10
    Integrated multi-omics for rapid rare disease diagnosis on a national scale

    Integrated multi-omics for rapid rare disease diagnosis on a national scale by Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, Sarah A. Sandaradura, Meredith Wilson, Jason Pinner, Matthew F. Hunter, Christopher Barnett, Mathew Wallis, Benjamin Kamien, Tiong Yang Tan, Mary‐Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S. Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R. Jackson, Hamish S. Scott, Stefanie Eggers, Simone M. Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R. Brett, M. De Silva, Amanda Springer, Michelle C. Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J. Van Bergen, Tim Sikora, Liana N. Semcesen, David A. Stroud, Alison G. Compton, David R. Thorburn, Katrina M. Bell, Simon Sadedin, Kathryn N. North, John Christodoulou, Zornitza Stark

    Published 2023
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  11. 11
    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 by 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

    Published 2020
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  12. 12
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 by Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

    Published 2020
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