检索结果 - Geralyn Creadon‐Swindell

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  1. 1
    The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in <i>ALDH7A1</i>

    The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in <i>ALDH7A1</i> 由 Gunter Scharer, Chad Brocker, Vasilis Vasiliou, Geralyn Creadon‐Swindell, Renata C. Gallagher, Elaine Spector, Johan L.K. Van Hove

    出版 2010
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  2. 2
    Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

    Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia 由 Michael A. Swanson, Curtis R. Coughlin, Gunter Scharer, Heather Szerlong, Kendra Bjoraker, Elaine Spector, Geralyn Creadon‐Swindell, Vincent Mahieu, Gert Matthijs, Julia B. Hennermann, Derek A. Applegarth, Jennifer R. Toone, Suhong Tong, Kristina Williams, Johan L.K. Van Hove

    出版 2015
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  3. 3
    Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder

    Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder 由 Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich, Hung‐Chun Yu, Elizabeth A. Geiger, Geralyn Creadon‐Swindell, Abigail E. Collins, Arnaud Vanlander, Rudy Van Coster, Christopher A. Powell, Michael A. Swanson, Michal Minczuk, Johan L.K. Van Hove, Tamim H. Shaikh

    出版 2015
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  4. 4
    Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

    Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia 由 Kendra Bjoraker, Michael A. Swanson, Curtis R. Coughlin, John Christodoulou, Ee Shien Tan, Mark Fergeson, Sarah Dyack, Ayesha Ahmad, Marisa W. Friederich, Elaine Spector, Geralyn Creadon‐Swindell, Marie Antoinette Redoblado-Hodge, Sommer Gaughan, Casey Burns, Johan L.K. Van Hove

    出版 2015
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  5. 5
    The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

    The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT 由 Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez‐Pombo, Marja-Leena Väisänen, Elaine Spector, Geralyn Creadon‐Swindell, Ana M. Brás-Goldberg, Elisa Rahikkala, Jukka S. Moilanen, Vincent Mahieu, Gert Matthijs, Irene Bravo‐Alonso, Celia Pérez‐Cerdá, Magdalena Ugarte, Christine Vianey‐Saban, Gunter Scharer, Johan L.K. Van Hove

    出版 2016
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  6. 6
    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 由 Peter R. Baker, Marisa W. Friederich, Michael A. Swanson, Tamim H. Shaikh, Kaustuv Bhattacharya, Gunter Scharer, Joseph K. Aicher, Geralyn Creadon‐Swindell, Elizabeth A. Geiger, Kenneth N. Maclean, Wang‐Tso Lee, Charu Deshpande, Mary-Louise Freckmann, Ling-Yu Shih, Melissa Wasserstein, Malene Bøgehus Rasmussen, Allan M. Lund, Peter Procopis, Jessie M. Cameron, Brian H. Robinson, Garry K. Brown, Ruth M. Brown, Alison G. Compton, Carol L. Dieckmann, Renata Collard, Curtis R. Coughlin, Elaine Spector, Michael F. Wempe, Johan L.K. Van Hove

    出版 2013
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