Výsledky vyhledávání - Ravi Savarirayan

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  1. 1
    Osteopetrosis

    Osteopetrosis Autor Zornitza Stark, Ravi Savarirayan

    Vydáno 2009
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  2. 2
    Novel therapeutic approaches for the treatment of achondroplasia

    Novel therapeutic approaches for the treatment of achondroplasia Autor Laurence Legeai‐Mallet, Ravi Savarirayan

    Vydáno 2020
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  3. 3
    Optimal management of complications associated with achondroplasia

    Optimal management of complications associated with achondroplasia Autor Penny Ireland, Verity Pacey, Andreas Zankl, Priya Edwards, Leanne Johnson, Ravi Savarirayan

    Vydáno 2014
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  4. 4
    Mutations ofCOL10A1 in Schmid metaphyseal chondrodysplasia

    Mutations ofCOL10A1 in Schmid metaphyseal chondrodysplasia Autor John F. Bateman, Richard Wilson, Susanna Freddi, Shireen R. Lamandé, Ravi Savarirayan

    Vydáno 2005
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  5. 5
    Current knowledge of medical complications in adults with achondroplasia: A scoping review

    Current knowledge of medical complications in adults with achondroplasia: A scoping review Autor Svein O. Fredwall, Grethe Maanum, Heidi Johansen, Hildegun Snekkevik, Ravi Savarirayan, Ingeborg Beate Lidal

    Vydáno 2019
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  6. 6
    International guidelines for the management and treatment of Morquio A syndrome

    International guidelines for the management and treatment of Morquio A syndrome Autor Christian J. Hendriksz, Kenneth I. Berger, Roberto Giugliani, Paul Harmatz, Christoph Kampmann, William G. Mackenzie, Julian Raiman, Martha Solano Villarreal, Ravi Savarirayan

    Vydáno 2014
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  7. 7
    Effect of Perindopril on Large Artery Stiffness and Aortic Root Diameter in Patients With Marfan Syndrome

    Effect of Perindopril on Large Artery Stiffness and Aortic Root Diameter in Patients With Marfan Syndrome Autor Anna A. Ahimastos, Anuradha Aggarwal, Kellie M. D’Orsa, Melissa F. Formosa, Anthony J. White, Ravi Savarirayan, Anthony M. Dart, Bronwyn A. Kingwell

    Vydáno 2007
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  8. 8
    Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively

    Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively Autor Rachel B. Keller, Thao Tran, Shawna M. Pyott, Melanie Pepin, Ravi Savarirayan, George McGillivray, Deborah A. Nickerson, Michael J. Bamshad, Peter H. Byers

    Vydáno 2017
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  9. 9
    TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA

    TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA Autor S. P. Lucia, Alessandra Pangrazio, Cristina Sobacchi, Anna Taranta, Geert Mortier, Ravi Savarirayan, Anna Villa, Paul J. Orchard, Paolo Vezzoni, Alberto Albertini, Annalisa Frattini, Franco Pagani

    Vydáno 2004
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  10. 10
    Functional performance in young Australian children with achondroplasia

    Functional performance in young Australian children with achondroplasia Autor Penelope J. Ireland, James McGill, Andreas Zankl, Robert S. Ware, Verity Pacey, J. Ault, Ravi Savarirayan, David Sillence, Elizabeth M. Thompson, Sharron Townshend, Leanne M. Johnston

    Vydáno 2011
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  11. 11
    Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia

    Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia Autor Louise Tofts, Penny Ireland, Tracy Tate, Supriya Raj, Theresa L. Carroll, Craig Munns, Stephen Knipe, Katherine Langdon, Lesley McGregor, F. Ellis McKenzie, Andreas Zankl, Ravi Savarirayan

    Vydáno 2024
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  12. 12
    Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

    Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome Autor Kerry A. Miller, Casey Ah-Cann, Megan F. Welfare, Tiong Yang Tan, Kate Pope, Georgina Caruana, Mary‐Louise Freckmann, Ravi Savarirayan, John F. Bertram, Michael S. Dobbie, John F. Bateman, Peter G. Farlie

    Vydáno 2013
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  13. 13
    Nosology and classification of genetic skeletal disorders: 2015 revision

    Nosology and classification of genetic skeletal disorders: 2015 revision Autor Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen W. Spranger, Andrea Superti‐Furga, Matthew L. Warman, Sheila Unger

    Vydáno 2015
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  14. 14
    Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

    Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia Autor Ravi Savarirayan, Judith Pratt Rossiter, Julie Hoover‐Fong, Melita Irving, Viviana Bompadre, Michael J. Goldberg, Michael B. Bober, Tae‐Joon Cho, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha S. Spencer, Klane K. White

    Vydáno 2018
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  15. 15
    Nosology and classification of genetic skeletal disorders: 2019 revision

    Nosology and classification of genetic skeletal disorders: 2019 revision Autor Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti‐Furga, Sheila Unger, Matthew L. Warman

    Vydáno 2019
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  16. 16
    Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

    Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide... Autor Ravi Savarirayan, Wagner Antonio da Rosa Baratela, Thomas Butt, Valérie Cormier‐Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron G. Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael Wright, Svein O. Fredwall

    Vydáno 2022
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  17. 17
    Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

    Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history Autor Julie Hoover‐Fong, Moira Cheung, Virginia Fano, Lars Hagenäs, Jacqueline T. Hecht, Penny Ireland, Melita Irving, Klaus Mohnike, Amaka C Offiah, Ericka Okenfuss, Keiichi Ozono, Cathleen Raggio, Louise Tofts, Dominique Kelly, Renée Shediac, Wayne Pan, Ravi Savarirayan

    Vydáno 2021
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  18. 18
    eP204: Expert opinions regarding impact of achondroplasia on health-related quality of life and long-term effects of vosoritide: A modified Delphi study

    eP204: Expert opinions regarding impact of achondroplasia on health-related quality of life and long-term effects of vosoritide: A modified Delphi study Autor Ravi Savarirayan, Wagner Antonio da Rosa Baratela, Thomas Butt, Valérie Cormier‐Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron G. Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael E. Wright, Svein O. Fredwall

    Vydáno 2022
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  19. 19
    Best practices in peri‐operative management of patients with skeletal dysplasias

    Best practices in peri‐operative management of patients with skeletal dysplasias Autor Klane K. White, Viviana Bompadre, Michael J. Goldberg, Michael B. Bober, Tae‐Joon Cho, Julie Hoover‐Fong, Melita Irving, William G. Mackenzie, Shawn E. Kamps, Cathleen Raggio, Gregory J. Redding, Samantha S. Spencer, Ravi Savarirayan, Mary C. Theroux

    Vydáno 2017
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  20. 20
    Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

    Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis Autor Pleasantine Mill, Paul J. Lockhart, Elizabeth Fitzpatrick, Hayley S. Mountford, Emma A. Hall, Martin A.M. Reijns, Margaret Keighren, Melanie Bahlo, Catherine J. Bromhead, Peter S. Budd, Salim Aftimos, Martin B. Delatycki, Ravi Savarirayan, Ian J. Jackson, David J. Amor

    Vydáno 2011
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