检索结果 - Hugh J. McCarthy

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  1. 1
    Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

    Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders 由 Andrew Mallett, Hugh J. McCarthy, Gladys Ho, Katherine Holman, Elizabeth Farnsworth, Chirag Patel, Jeffery Fletcher, Amali Mallawaarachchi, Catherine Quinlan, Bruce Bennetts, Stephen I. Alexander

    出版 2017
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  2. 2
    Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation

    Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation 由 You Wu, Kushani Jayasinghe, Zornitza Stark, Catherine Quinlan, Chirag Patel, Hugh J. McCarthy, Amali Mallawaarachchi, Peter G. Kerr, Stephen I. Alexander, Andrew Mallett, Ilias Goranitis

    出版 2023
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  3. 3
    Initial Steroid Sensitivity in Children with Steroid-Resistant Nephrotic Syndrome Predicts Post-Transplant Recurrence

    Initial Steroid Sensitivity in Children with Steroid-Resistant Nephrotic Syndrome Predicts Post-Transplant Recurrence 由 Wen Y. Ding, Ania Koziell, Hugh J. McCarthy, Agnieszka Bierżyńska, Murali Bhagavatula, Jan Dudley, Carol Inward, Richard J. Coward, Jane Tizard, Christopher Reid, Corinne Antignac, Olivia Boyer, Moin A. Saleem

    出版 2014
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  4. 4
    MAGI2 Mutations Cause Congenital Nephrotic Syndrome

    MAGI2 Mutations Cause Congenital Nephrotic Syndrome 由 Agnieszka Bierżyńska, Katrina Soderquest, P. Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol Inward, Hugh J. McCarthy, Michael A. Simpson, Graham M. Lord, Maggie Williams, Gavin I. Welsh, Ania Koziell, Moin A. Saleem

    出版 2016
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  5. 5
    Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

    Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome 由 Lwaki Ebarasi, Shazia Ashraf, Agnieszka Bierżyńska, Heon Yung Gee, Hugh J. McCarthy, Svjetlana Lovric, Carolin E. Sadowski, Werner L. Pabst, Virginia Vega-Warner, Humphrey Fang, Ania Koziell, Michael A. Simpson, İsmail Dursun, Erkin Serdaroğlu, Shawn Levy, Moin A. Saleem, Friedhelm Hildebrandt, Årindam Majumdar

    出版 2014
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  6. 6
    Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

    Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome 由 Hugh J. McCarthy, Agnieszka Bierżyńska, M. Wherlock, Miloš Ognjanović, Larissa Kerecuk, Shivaram Hegde, Sally Feather, Rodney D. Gilbert, Leah Krischock, Caroline Jones, Manish D. Sinha, Nicholas J.A. Webb, Martin Christian, Margaret M. Williams, Stephen D. Marks, Ania Koziell, Gavin I. Welsh, Moin A. Saleem

    出版 2013
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  7. 7
    Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

    Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management 由 Agnieszka Bierżyńska, Hugh J. McCarthy, Katrina Soderquest, Ethan S. Sen, Elizabeth Colby, Wen Y. Ding, Marwa M. Nabhan, Larissa Kerecuk, Shivram Hegde, David Hughes, Stephen D. Marks, Sally Feather, Caroline Jones, Nicholas J.A. Webb, Miloš Ognjanović, Martin Christian, Rodney D. Gilbert, Manish D. Sinha, Graham M. Lord, Michael A. Simpson, Ania Koziell, Gavin I. Welsh, Moin A. Saleem

    出版 2017
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  8. 8
    Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol

    Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol 由 Amali Mallawaarachchi, Hugh J. McCarthy, Thomas Forbes, Kushani Jayasinghe, Chirag Patel, Stephen I. Alexander, Tiffany Boughtwood, Jeffrey Braithwaite, Aron Chakera, Sam Crafter, Ira W. Deveson, Randall Faull, Trudie Harris, Lilian Johnstone, Matthew Jose, A Leaver, Melissa H. Little, Daniel G. MacArthur, Tessa Mattiske, Christine Mincham, Kathy Nicholls, Catherine Quinlan, Michael C. Quinn, Gopala K. Rangan, Jessica Ryan, Cas Simons, Ian Smyth, Madhivanan Sundaram, Peter Trnka, Laura Wedd, Erik Biroš, Zornitza Stark, Andrew Mallett

    出版 2025
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  9. 9
    A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants

    A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants 由 Georgia Malakasioti, Daniela Iancu, А.М. Милованова, А.Н. Цыгин, Tomoko Horinouchi, China Nagano, Kandai Nozu, Koichi Kamei, Shuichiro Fujinaga, Kazumoto Iijima, Hee Gyung Kang, Rajiv Sinha, Biswanath Basu, William Morello, Giovanni Montini, Aoife Waters, Olivia Boyer, Zeynep Yürük Yıldırım, Sibel Yel, İsmail Dursun, Hugh J. McCarthy, Marina Vivarelli, Larisa Prikhodina, Martine Besouw, Eugene Yu-hin Chan, Wenyan Huang, Markus J. Kemper, Sebastian Loos, Chanel Prestidge, William Wong, Galia Zlatanova, Rasmus Ehren, Lutz T. Weber, Hassib Chehade, Nakysa Hooman, Marcin Tkaczyk, Małgorzata Stańczyk, Michael Miligkos, Kjell Tullus

    出版 2023
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  10. 10
    Genomic Testing in Patients with Kidney Failure of an Unknown Cause

    Genomic Testing in Patients with Kidney Failure of an Unknown Cause 由 Amali Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O’Shea, Erik Biroš, Trudie Harris, Stephen I. Alexander, Simon Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steven J. Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew Jose, A Leaver, Mandi MacShane, Evanthia O. Madelli, Kathy Nicholls, Rhonda Pawlowski, Gopala K. Rangan, Paul Snelling, Jacqueline Soraru, M Sundaram, Michel Tchan, Giulia Valente, Mathew Wallis, Laura Wedd, M. J. Welland, John Whitlam, Ella Wilkins, Hugh J. McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew Mallett

    出版 2024
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  11. 11
    Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

    Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years 由 Kushani Jayasinghe, Erik Biroš, Trudie Harris, Alasdair Wood, Rosie O’Shea, Lauren M. Hill, Lindsay Fowles, Louise Wardrop, Carolyn Shalhoub, Deirdré Hahn, Gopala K. Rangan, Lucy Kevin, Michel Tchan, Paul Snelling, Rhiannon Sandow, Madhivan Sundaram, Swasti Chaturvedi, Peter Trnka, Randall Faull, Nicola Poplawski, Vanessa Huntley, Denisse Garza, Mathew Wallis, Matthew Jose, A Leaver, Alison H. Trainer, Ella Wilkins, Sue White, Yoni Elbaum, Yael Prawer, Emma Krzesinski, Giulia Valente, Ingrid Winship, Jessica Ryan, John Whitlam, Kathy Nicholls, Kirsty West, Liz Donaldson, Lilian Johnstone, Miranda F. Lewit‐Mendes, Peter G. Kerr, Simon Bodek, Aron Chakera, Mandi MacShane, Christine Mincham, Elaine Stackpoole, Francis R Willis, Jacqueline Soraru, Nick Pachter, Bruce Bennetts, Thomas Forbes, Amali Mallawaarachchi, Catherine Quinlan, Chirag Patel, Hugh J. McCarthy, Illias Goranitis, Stephanie Best, Stephen I. Alexander, Zornitza Stark, Andrew Mallett

    出版 2024
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