Rezultaty - Gareth Baynam

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  1. 1
    The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations

    The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations od Kascia Pavisich, Hannah Jones, Gareth Baynam

    Wydane 2024
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  2. 2
    Stigma associated with genetic testing for rare diseases—causes and recommendations

    Stigma associated with genetic testing for rare diseases—causes and recommendations od Gareth Baynam, Roy Gomez, Ritu Jain

    Wydane 2024
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  3. 3
    A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

    A brief history of MECP2 duplication syndrome: 20-years of clinical understanding od Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, Helen Leonard

    Wydane 2022
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  4. 4
    Editorial: Precision Public Health

    Editorial: Precision Public Health od Tarun Weeramanthri, Hugh Dawkins, Gareth Baynam, M. Bellgard, Ori Gudes, James B. Semmens

    Wydane 2018
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  5. 5
    Optimizing Precision Medicine for Public Health

    Optimizing Precision Medicine for Public Health od Gemma A. Bilkey, Belinda L. Burns, Emily P. Coles, Trinity Mahede, Gareth Baynam, Kristen L. Nowak

    Wydane 2019
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  6. 6
    Dispelling myths about rare disease registry system development

    Dispelling myths about rare disease registry system development od M. Bellgard, Christophe Béroud, Kay Parkinson, Tess Harris, Ségolène Aymé, Gareth Baynam, Tarun Weeramanthri, Hugh Dawkins, Adam Hunter

    Wydane 2013
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  7. 7
    Indigenous Australian genomes show deep structure and rich novel variation

    Indigenous Australian genomes show deep structure and rich novel variation od Matthew Silcocks, Ashley Farlow, Azure Hermes, Georgia Tsambos, Hardip R. Patel, Sharon Huebner, Gareth Baynam, Misty R. Jenkins, Damjan Vukcevic, Simon Easteal, Stephen Leslie, Ashley Farlow, Azure Hermes, Hardip R. Patel, Sharon Huebner, Gareth Baynam, Misty R. Jenkins, Simon Easteal, Stephen Leslie

    Wydane 2023
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  8. 8
    A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

    A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing od Benjamin Kamien, Anne Ronan, Gemma Poke, Ingrid Sinnerbrink, Gareth Baynam, Michelle C. Ward, William T. Gibson, Tracy Dudding‐Byth, Rodney J. Scott

    Wydane 2018
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  9. 9
    Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora

    Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora od Tudor Groza, Sebastian Köhler, Sandra C. Doelken, Nigel Collier, Anika Oellrich, Damian Smedley, Francisco M. Couto, Gareth Baynam, Andreas Zankl, Peter N. Robinson

    Wydane 2015
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  10. 10
    Carpenter syndrome: extended <i>RAB23</i> mutation spectrum and analysis of nonsense‐mediated mRNA decay

    Carpenter syndrome: extended <i>RAB23</i> mutation spectrum and analysis of nonsense‐mediated mRNA decay od Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elçioǧlu, Michael T. Gabbett, Louanne Hudgins, Jane A. Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O.M. Wilkie

    Wydane 2011
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  11. 11
    Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

    Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges od Gemma A. Bilkey, Belinda L. Burns, Emily P. Coles, Faye L. Bowman, John Beilby, Nicholas Pachter, Gareth Baynam, Hugh Dawkins, Kristen L. Nowak, Tarun Weeramanthri

    Wydane 2019
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  12. 12
    Rare disease education in Europe and beyond: time to act

    Rare disease education in Europe and beyond: time to act od Birutė Tumienė, Harm Peters, Béla Melegh, Borut Peterlin, Algirdas Utkus, Natalja Fatkulina, György Pfliegler, Holm Graeßner, Sanja Hermanns, Maurizio Scarpa, Jean‐Yves Blay, Sharon Ashton, Lucy Mckay, Gareth Baynam

    Wydane 2022
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  13. 13
    The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

    The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort od C. E. Walker, Trinity Mahede, Geoff Davis, Laura Miller, Jennifer Girschik, Kate Brameld, Wenxing Sun, Ana Rath, Ségolène Aymé, Stephen R. Zubrick, Gareth Baynam, Caron Molster, Hugh Dawkins, Tarun Weeramanthri

    Wydane 2016
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  14. 14
    The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

    The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact od Hanns Lochmüller, Josep Torrent i Farnell, Yann Le Cam, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau, Gareth Baynam, Petra Kaufmann, Hugh Dawkins, Paul Lasko, Christopher P. Austin, Kym M. Boycott

    Wydane 2017
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  15. 15
    A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

    A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers od Kym M. Boycott, Taila Hartley, Leslie G. Biesecker, Richard A. Gibbs, A. Micheil Innes, Olaf Rieß, John W. Belmont, Sally L. Dunwoodie, Nebojša Jojić, Timo Lassmann, Deborah Mackay, I. Karen Temple, Axel Visel, Gareth Baynam

    Wydane 2019
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  16. 16
    Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective

    Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective od Hugh Dawkins, Ruxandra Draghia‐Akli, Paul Lasko, Lilian Pek Lian Lau, Anneliene Hechtelt Jonker, Christine M. Cutillo, Ana Rath, Kym M. Boycott, Gareth Baynam, Hanns Lochmüller, Petra Kaufmann, Yann Le Cam, Virginie Hivert, Christopher P. Austin

    Wydane 2017
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  17. 17
    Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases

    Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases od Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron Molster, Lucía Monaco, Carmencita D. Padilla, Anne Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, Flaminia Macchia

    Wydane 2024
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  18. 18
    The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

    The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease od Tudor Groza, Sebastian Köhler, Dawid Moldenhauer, Nicole Vasilevsky, Gareth Baynam, Tomasz Żemojtel, Lynn M. Schriml, Warren A. Kibbe, Paul N. Schofield, Tim Beck, Drashtti Vasant, Anthony J. Brookes, Andreas Zankl, Nicole L. Washington, Chris Mungall, Suzanna E. Lewis, Melissa Haendel, Helen Parkinson, Peter N. Robinson

    Wydane 2015
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  19. 19
    Extending the phenotypes associated with<i>DICER1</i>mutations

    Extending the phenotypes associated with<i>DICER1</i>mutations od William D. Foulkes, Amin Bahubeshi, Nancy Hamel, Barbara Pasini, Sofia Asioli, Gareth Baynam, Catherine S. Choong, Adrian Charles, Richard P. Frieder, Megan K. Dishop, Nicole Graf, Mesiha Ekim, Dorothée Bouron‐Dal Soglio, Jocelyne Arseneau, Robert H. Young, Nelly Sabbaghian, Archana Srivastava, Marc Tischkowitz, John R. Priest

    Wydane 2011
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  20. 20
    How many rare diseases are there?

    How many rare diseases are there? od Melissa Haendel, Nicole Vasilevsky, Deepak Unni, Cristian Bologa, Nomi L. Harris, Heidi L. Rehm, Ada Hamosh, Gareth Baynam, Tudor Groza, Julie A. McMurry, Hugh Dawkins, Ana Rath, Courtney Thaxton, Giovanni Bocci, Marcin P. Joachimiak, Sebastian Köhler, Peter N. Robinson, Chris Mungall, Tudor I. Oprea

    Wydane 2019
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