Resultats de la cerca - Megan R. Vanstone

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  1. 1
    SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

    SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases per Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie- Josée Dicaire, Megan R. Vanstone, Jean Mathieu, Jean‐Pierre Bouchard, Marie‐France Rioux, Guy A. Rouleau, Kym M. Boycott, Jacek Majewski, Bernard Brais

    Publicat 2015
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  2. 2
    Mutations in PIK3R1 Cause SHORT Syndrome

    Mutations in PIK3R1 Cause SHORT Syndrome per David A. Dyment, Amanda Smith, Diana Alcantara, Jeremy Schwartzentruber, Lina Basel‐Vanagaite, Cynthia J. Curry, I. Karen Temple, William Reardon, Sahar Mansour, Mushfequr R. Haq, Rodney D. Gilbert, Ordan J. Lehmann, Megan R. Vanstone, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Kym M. Boycott, A. Micheil Innes

    Publicat 2013
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  3. 3
    A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

    A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis per Yee Him Cheung, Tenzin Gayden, Philippe M. Campeau, Charles A. LeDuc, Donna Russo, Văn Hùng Nguyễn, Jiancheng Guo, Ming Qi, Yanfang Guan, Steffen Albrecht, Brenda Moroz, Karen W. Eldin, James T. Lu, Jeremy Schwartzentruber, David Malkin, Albert M. Berghuis, Sherif Emil, Richard A. Gibbs, David L. Burk, Megan R. Vanstone, Brendan Lee, David Orchard, Kym M. Boycott, Wendy K. Chung, Nada Jabado

    Publicat 2013
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  4. 4
    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome per Ghayda Mirzaa, David Parry, Andrew E. Fry, Kristin A. Giamanco, Jeremy Schwartzentruber, Megan R. Vanstone, Clare V. Logan, Nicola Roberts, Colin A. Johnson, Shawn Singh, Stanislav S. Kholmanskikh, Carissa Adams, Rebecca D. Hodge, Robert F. Hevner, David T. Bonthron, Kees P. J. Braun, Laurence Faivre, Jean‐Baptiste Rivière, Judith St‐Onge, Karen W. Gripp, Grazia M.S. Mancini, Ki Pang, Elizabeth Sweeney, Hilde Van Esch, Nienke E. Verbeek, Dagmar Wieczorek, Michelle Steinraths, Jacek Majewski, Kym M. Boycott, Daniela T. Pilz, M. Elizabeth Ross, William B. Dobyns, Eamonn Sheridan

    Publicat 2014
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  5. 5
    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases per Kym M. Boycott, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya, Gareth Baynam, Anthony J. Brookes, Michael Brudno, Ángel Carracedo, Johan T. den Dunnen, Stephanie O. M. Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C. Groft, Marta Gut, Ada Hamosh, Philip Hieter, Sophie Höhn, Matthew E. Hurles, Petra Kaufmann, Bartha Maria Knoppers, Jeffrey P. Krischer, Milan Maçek, Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony Philippakis, Heidi L. Rehm, Peter N. Robinson, Pak C. Sham, Румен Стефанов, Domenica Taruscio, Divya Unni, Megan R. Vanstone, Feng Zhang, Han G. Brunner, Michael J. Bamshad, Hanns Lochmüller

    Publicat 2017
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  6. 6
    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update per Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A. Dabir, Katrina M. Dipple, William B. Dobyns, Jane Estrella, Hanna Faghfoury, Francine Pinheiro Favaro, Himanshu Goel, Pernille Axél Gregersen, Karen W. Gripp, Art Grix, M. L. Guion‐Almeida, Margaret Harr, Cindy Hudson, Alasdair G. W. Hunter, John P. Johnson, Shelagh Joss, Amy Kimball, Usha Kini, Antonie D. Kline, Julie Lauzon, Dorte L. Lildballe, Vanesa López‐González, Johanna Martinezmoles, Cliff Meldrum, Ghayda Mirzaa, Chantal F. Morel, Jenny E.V. Morton, Louise C. Pyle, Fabiola Quintero‐Rivera, Julie Richer, Angela E. Scheuerle, Bitten Schönewolf‐Greulich, Deborah Shears, Josh Silver, Amanda Smith, I. Karen Temple, Jiddeke M. van de Kamp, Fleur S van Dijk, Anthony M. Vandersteen, Sue M. White, Elaine H. Zackai, Ruobing Zou, CareRare Canada Consortium, Dennis E. Bulman, Kym M. Boycott, Matthew A. Lines

    Publicat 2015
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