检索结果 - Martin B. Delatycki

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  1. 1
    Clinical Features of Friedreich Ataxia

    Clinical Features of Friedreich Ataxia 由 Martin B. Delatycki, Louise A. Corben

    出版 2012
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  2. 2
    Friedreich ataxia- pathogenesis and implications for therapies

    Friedreich ataxia- pathogenesis and implications for therapies 由 Martin B. Delatycki, Sanjay I. Bidichandani

    出版 2019
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  3. 3
    Communicating genetic information in families – a review of guidelines and position papers

    Communicating genetic information in families – a review of guidelines and position papers 由 Laura Forrest, Martin B. Delatycki, Loane Skene, MaryAnne Aitken

    出版 2007
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  4. 4
    Carrier screening for Beta-thalassaemia: a review of international practice

    Carrier screening for Beta-thalassaemia: a review of international practice 由 Nicole Cousens, Clara Gaff, Sylvia A. Metcalfe, Martin B. Delatycki

    出版 2010
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  5. 5
    Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments: Figure 1

    Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments: Figure 1 由 Cara Mand, Lynn Gillam, Martin B. Delatycki, Rony E. Duncan

    出版 2012
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  6. 6
    How is disease progress in Friedreich's ataxia best measured? A study of four rating scales

    How is disease progress in Friedreich's ataxia best measured? A study of four rating scales 由 Michael Fahey, Louise A. Corben, V. Collins, Andrew Churchyard, Martin B. Delatycki

    出版 2006
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  7. 7
    An international survey of predictive genetic testing in children for adult onset conditions

    An international survey of predictive genetic testing in children for adult onset conditions 由 Rony E. Duncan, Julian Savulescu, Lynn Gillam, Robert Williamson, Martin B. Delatycki

    出版 2005
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  8. 8
    Understanding the Costs of Care for Cystic Fibrosis: An Analysis by Age and Health State

    Understanding the Costs of Care for Cystic Fibrosis: An Analysis by Age and Health State 由 Kees Van Gool, Richard Norman, Martin B. Delatycki, Jane Hall, John Massie

    出版 2013
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  9. 9
    Consensus clinical management guidelines for Friedreich ataxia

    Consensus clinical management guidelines for Friedreich ataxia 由 Louise A. Corben, David T. Lynch, Massimo Pandolfo, Jörg B. Schulz, Martin B. Delatycki

    出版 2014
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  10. 10
    Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review

    Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review 由 Sarah Milne, Louise A. Corben, Nellie Georgiou‐Karistianis, Martin B. Delatycki, Eppie M. Yiu

    出版 2017
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  11. 11
    <i>RFC1</i>-Related Disease

    <i>RFC1</i>-Related Disease 由 Kayli C. Davies, David J. Szmulewicz, Louise A. Corben, Martin B. Delatycki, Paul J. Lockhart

    出版 2022
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  12. 12
    Recent advances in the detection of repeat expansions with short-read next-generation sequencing

    Recent advances in the detection of repeat expansions with short-read next-generation sequencing 由 Melanie Bahlo, Mark F. Bennett, Peter Degorski, Rick M. Tankard, Martin B. Delatycki, Paul J. Lockhart

    出版 2018
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  13. 13
    Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

    Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data 由 Rick M. Tankard, Mark F. Bennett, Peter Degorski, Martin B. Delatycki, Paul J. Lockhart, Melanie Bahlo

    出版 2018
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  14. 14
    Dysarthria in Friedreich’s Ataxia: A Perceptual Analysis

    Dysarthria in Friedreich’s Ataxia: A Perceptual Analysis 由 Joanne E. Folker, Bruce E. Murdoch, Louise Cahill, Martin B. Delatycki, Louise A. Corben, Adam P. Vogel

    出版 2010
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  15. 15
    Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

    Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research 由 Liane Ioannou, Belinda McClaren, John Massie, Sharon Lewis, Sylvia A. Metcalfe, Laura Forrest, Martin B. Delatycki

    出版 2013
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  16. 16
    ‘Small cost to pay for peace of mind’: Women's experiences with non‐invasive prenatal testing

    ‘Small cost to pay for peace of mind’: Women's experiences with non‐invasive prenatal testing 由 Hilary Bowman‐Smart, Julian Savulescu, Cara Mand, Christopher Gyngell, Mark D. Pertile, Sharon Lewis, Martin B. Delatycki

    出版 2019
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  17. 17
    ‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications

    ‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications 由 Hilary Bowman‐Smart, Julian Savulescu, Cara Mand, Christopher Gyngell, Mark D. Pertile, Sharon Lewis, Martin B. Delatycki

    出版 2019
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  18. 18
    Updating the diagnosis and management of elevated serum ferritin levels in the era of routine ferritin testing of blood donors by Australian Red Cross Lifeblood

    Updating the diagnosis and management of elevated serum ferritin levels in the era of routine ferritin testing of blood donors by Australian Red Cross Lifeblood 由 Gary D Zhang, James Chen, Daniel M. Johnstone, Martin B. Delatycki, Katrina J. Allen, John K. Olynyk

    出版 2025
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  19. 19
    Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

    Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia 由 Martin B. Delatycki, James Camakaris, Hilary Brooks, Tracy Evans‐Whipp, David R. Thorburn, Robert Williamson, Susan M. Forrest

    出版 1999
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  20. 20
    Harmonizing results of ataxia rating scales: <scp>mFARS</scp>, <scp>SARA,</scp> and <scp>ICARS</scp>

    Harmonizing results of ataxia rating scales: <scp>mFARS</scp>, <scp>SARA,</scp> and <scp>ICARS</scp> 由 Christian Rummey, Ian H. Harding, Martin B. Delatycki, Geneieve Tai, Thiago Junqueira Ribeiro de Rezende, Louise A. Corben

    出版 2022
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