Suchergebnisse - Desirée du Sart

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  1. 1
    Population screening and cascade testing for carriers of SMA

    Population screening and cascade testing for carriers of SMA von Melanie Smith, Vanessa Calabro, Belinda Chong, Nicole Gardiner, Shannon Cowie, Desirée du Sart

    Veröffentlicht 2007
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  2. 2
    A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

    A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation von Peter Gochee, Lawrie W. Powell, Digby J Cullen, Desirée du Sart, Enrico Rossi, John K. Olynyk

    Veröffentlicht 2002
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  3. 3
    Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds

    Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds von Rodney J. Scott, Mary McPhillips, Cliff Meldrum, Patrick Fitzgerald, Kirsten E. Adams, Allan D. Spigelman, Desirée du Sart, Kathy Tucker, Judy Kirk

    Veröffentlicht 2001
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  4. 4
    Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics

    Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics von Lisa V. Kalman, Ira M. Lubin, Shannon Barker, Desirée du Sart, Rob Elles, Wayne W. Grody, Mario Pazzagli, Sue Richards, Iris Schrijver, Barbara A. Zehnbauer

    Veröffentlicht 2013
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  5. 5
    EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

    EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias von Jesse B.G. Hayesmoore, Zahurul A. Bhuiyan, Domenico Coviello, Desirée du Sart, Matthew Edwards, Maria Iascone, Deborah Morris‐Rosendahl, Katie Sheils, Marjon van Slegtenhorst, Kate Thomson

    Veröffentlicht 2023
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  6. 6
    Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH

    Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH von Elizabeth Chow, Lara Lipton, Elly Lynch, Rebecca D’Souza, C. Aragona, L Hodgkin, Gregor J. Brown, Ingrid Winship, Melissa Barker, Daniel D. Buchanan, Shannon Cowie, Steve Nasioulas, Desirée du Sart, Joanne Young, Barbara Leggett, Jeremy R. Jass, Finlay Macrae

    Veröffentlicht 2006
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  7. 7
    Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

    Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests von Alison D. Archibald, Melanie Smith, Trent Burgess, Katrina L. Scarff, Justine Elliott, Clare Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Wård, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B. Delatycki, Eppie M. Yiu, John Massie, Mark D. Pertile, Desirée du Sart, Damien L. Bruno, David J. Amor

    Veröffentlicht 2017
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  8. 8
    A Prospective Study of Sudden Cardiac Death among Children and Young Adults

    A Prospective Study of Sudden Cardiac Death among Children and Young Adults von Richard D. Bagnall, Robert G. Weintraub, Jodie Ingles, Johan Duflou, Laura Yeates, Lien Lam, Andrew M. Davis, T. Thompson, V. Connell, Jennie Wallace, Charles Naylor, Jackie Crawford, Donald R. Love, Lavinia Hallam, Jodi White, Christopher Lawrence, Matthew Lynch, Natalie Morgan, Paul A. James, Desirée du Sart, Rajesh Puranik, Neil E. I. Langlois, Jitendra K. Vohra, Ingrid Winship, J. Atherton, Julie McGaughran, Jonathan R. Skinner, Christopher Semsarian

    Veröffentlicht 2016
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  9. 9
    Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

    Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database von Bryony A. Thompson, Amanda B. Spurdle, John‐Paul Plazzer, Marc S. Greenblatt, Kiwamu Akagi, Fahd Al‐Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellà, Johan T. den Dunnen, Desirée du Sart, Aurélie Fabre, Michael Farrell, Susan M. Farrington, Ian M. Frayling, Thierry Frébourg, David E. Goldgar, Christopher D Heinen, Elke Holinski‐Feder, Maija Kohonen‐Corish, Kristina Lagerstedt‐Robinson, Suet Yi Leung, Alexandra Martins, Pål Møller, Monika Morak, Minna Nyström, Païvi Peltomäki, Marta Pineda, Ming Qi, Raj Ramesar, Lene Juel Rasmussen, Brigitte Royer‐Pokora, Rodney J. Scott, Rolf H. Sijmons, Sean V. Tavtigian, Carli M.J. Tops, Thomas Weber, Juul Wijnen, Michael O. Woods, Finlay Macrae, Maurizio Genuardi

    Veröffentlicht 2013
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  10. 10
    GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

    GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study von Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, J Waligora, Małgorzata Mueller‐Malesińska, Agnieszka Pollak, Rafał Płoski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwińska, Jerzy Bal, Wojciech Wiszniewski, Andreas Janecke, Doris Nekahm-Heis, Pavel Seeman, O. Bendová, Margaret A. Kenna, Anna Frangulov, Heidi L. Rehm, Mustafa Tekin, Armağan İncesulu, Hans‐Henrik M. Dahl, Desirée du Sart, Lucy Jenkins, Deirdre Lucas, Maria Bitner‐Glindzicz, Karen B. Avraham, Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister, István Sziklai, Tímea Tóth, Philip M. Kelley, Edward Cohn, Lionel Van Maldergem, Pascale Hilbert, Anne‐Françoise Roux, M. Mondain, Lies H. Hoefsloot, Cor W. R. J. Cremers, Tuija Löppönen, Heikki Löppönen, Agnete Parving, Karen Grønskov, Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini, Geneviève Lina‐Granade, Nathalie Pallares‐Ruiz, Céu Correia, Graça Fialho, Kim Cryns, Nele Hilgert, Paul Van de Heyning, Carla Nishimura, Richard J. Smith, Guy Van Camp

    Veröffentlicht 2005
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