Resultats de la cerca - David Mowat

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  1. 1
    Mowat-Wilson syndrome

    Mowat-Wilson syndrome per David Mowat

    Publicat 2003
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  2. 2
    Building capacity for evidence informed decision making in public health: a case study of organizational change

    Building capacity for evidence informed decision making in public health: a case study of organizational change per Leslea Peirson, Donna Ciliska, Maureen Dobbins, David Mowat

    Publicat 2012
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  3. 3
    Assessment of cardiac output by the Doppler ultrasound technique alone.

    Assessment of cardiac output by the Doppler ultrasound technique alone. per N E Haites, F M McLennan, David Mowat, John Rawles

    Publicat 1985
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  4. 4
    The behavioral phenotype of Mowat–Wilson syndrome

    The behavioral phenotype of Mowat–Wilson syndrome per Elizabeth Evans, Stewart Einfeld, David Mowat, John Taffe, Bruce J. Tonge, Meredith Wilson

    Publicat 2012
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  5. 5
    Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

    Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. per David Mowat, Geoffrey David Hain Croaker, Daniel T. Cass, Bronwyn Kerr, Jeffrey Chaitow, Lesley C. Adès, Nicole Chia, Meredith Wilson

    Publicat 1998
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  6. 6
    Incidence of Duchenne muscular dystrophy in the modern era; an Australian study

    Incidence of Duchenne muscular dystrophy in the modern era; an Australian study per Didu Kariyawasam, Arlene D’Silva, David Mowat, Jacqui Russell, Hugo Sampaio, Kristi Jones, Peter J. Taylor, Michelle A. Farrar

    Publicat 2022
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  7. 7
    Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy

    Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy per Peter J. Taylor, Grant A. Betts, Sarah Maroulis, Christian Gilissen, Robyn L. Pedersen, David Mowat, Heather Johnston, Michael F. Buckley

    Publicat 2010
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  8. 8
    Genetics of neuromuscular fetal akinesia in the genomics era

    Genetics of neuromuscular fetal akinesia in the genomics era per Sarah J. Beecroft, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark R. Davis, Nigel G. Laing, Gianina Ravenscroft

    Publicat 2018
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  9. 9
    Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

    Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease per V. Cacheux, Florence Dastot‐Le Moal, H Kääriäinen, Nadège Bondurand, Risto Rintala, Brigitte Boissier, Megan J. Wilson, David Mowat, M. Goossens

    Publicat 2001
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  10. 10
    A longitudinal study of change in substance use from before to during the COVID-19 pandemic in young adults

    A longitudinal study of change in substance use from before to during the COVID-19 pandemic in young adults per Marie‐Pierre Sylvestre, Gillis Delmas Tchouangue Dinkou, Mounia Naja, Teodora Riglea, Annie Pelekanakis, Mathieu Bélanger, Katerina Maximova, David Mowat, Gilles Paradis, Jennifer O’Loughlin

    Publicat 2022
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  11. 11
    Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

    Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis per Ningwu Huang, Amit V. Pandey, Vishal Agrawal, William Reardon, Pablo Lapunzina, David Mowat, Ethylin Wang Jabs, Guy Van Vliet, Joseph Sack, Christa E. Flück, Walter L. Miller

    Publicat 2005
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  12. 12
    Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

    Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy per Alison G. Compton, Douglas E. Albrecht, Jane T. Seto, Sandra T. Cooper, Biljana Ilkovski, Kristi Jones, Daniel Challis, David Mowat, Barbara Ranscht, Melanie Bahlo, Stanley C. Froehner, Kathryn N. North

    Publicat 2008
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  13. 13
    Healthy food procurement and nutrition standards in public facilities: evidence synthesis and consensus policy recommendations

    Healthy food procurement and nutrition standards in public facilities: evidence synthesis and consensus policy recommendations per Kim D., Raine, Kayla, Atkey, Dana Lee, Dana Lee, Alexa R., Ferdinands, Dominique, Beaulieu, Susan, Buhler, Norm, Campbell, Brian, Cook, Mary, L’Abbé, Ashley, Lederer, David, Mowat, Joshna, Maharaj, Candace, Nykiforuk, Jacob, Shelley, Jacqueline, Street

    Publicat 2018
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  14. 14
    Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

    Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing per Alan Ma, John Grigg, Gladys Ho, Ivan Prokudin, Elizabeth Farnsworth, Katherine Holman, Anson Cheng, Frank A. Billson, Frank Martin, Clare L. Fraser, David Mowat, James E. Smith, John Christodoulou, Maree Flaherty, Bruce Bennetts, Robyn V. Jamieson

    Publicat 2015
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  15. 15
    Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i>

    Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i> per Meredith Wilson, David Mowat, Florence Dastot‐Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton‐Smith, Sharron Townshend, Cynthia J. Curry, Michael Gattas, Stephen R. Braddock, Bronwyn Kerr, Salim Aftimos, Harry Zehnwirth, Catherine Barrey, Michel Goossens

    Publicat 2003
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  16. 16
    Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

    Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity per Rishika A. Pace, Rachel A. Peat, Naomi L. Baker, Laura Zamurs, Matthias Mörgelin, Melita Irving, Naomi E. Adams, John F. Bateman, David Mowat, Nicholas Smith, Phillipa J. Lamont, Steven A. Moore, Katherine D. Mathews, Kathryn N. North, Shireen R. Lamandé

    Publicat 2008
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  17. 17
    Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience

    Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience per Darcy A. Krueger, Jamie K. Capal, Paolo Curatolo, Orrin Devinsky, Kevin C. Ess, Michal Tzadok, Mary Kay Koenig, Vinodh Narayanan, Federico Ramos, Sergiusz Jóźwiak, Petrus de Vries, Anna Jansen, Michael Wong, David Mowat, John A. Lawson, Stephanie Bruns, David Neal Franz

    Publicat 2018
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  18. 18
    A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

    A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome per Sze Chern Lim, Katherine R. Smith, David A. Stroud, Alison G. Compton, Elena J. Tucker, Ayan Dasvarma, Luke C. Gandolfo, Justine E. Marum, Matthew McKenzie, Heidi Peters, David Mowat, Peter G. Procopis, Bridget Wilcken, John Christodoulou, Garry K. Brown, Michael T. Ryan, Melanie Bahlo, David R. Thorburn

    Publicat 2014
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  19. 19
    Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

    Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders per Lisa Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P. Kirk, Alison Colley, Carolyn Ellaway, Anne Turner, David Mowat, Lisa Worgan, Mary‐Louise Freckmann, Michelle Lipke, Rani Sachdev, David T. Miller, Michael Field, Marcel E. Dinger, Michael F. Buckley, Mark J. Cowley, Tony Roscioli

    Publicat 2018
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  20. 20
    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome per Fanny Kortüm, Viviana Caputo, Christiane K. Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici, Paola Grammatico, Georg Christoph Korenke, Vincenzo Leuzzi, David Mowat, Lal D V Nair, Thi Tuyet Mai Nguyen, Patrick Thierry, Susan M. White, Bruno Dallapiccola, Antonio Pizzuti, Philippe M. Campeau, Marco Tartaglia, Kerstin Kutsche

    Publicat 2015
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