نتائج البحث - Brad Angle

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  1. 1
    Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome

    Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome حسب Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim, Brad Angle, Lihua Y. Marmorstein, Zsolt Urbán

    منشور في 2006
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    Artigo
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  2. 2
    Whole exome sequence analysis of Peters anomaly

    Whole exome sequence analysis of Peters anomaly حسب Eric Weh, Linda M. Reis, Hannah C. Happ, Alex V. Levin, Patricia G. Wheeler, Karen L. David, Erin Carney, Brad Angle, Natalie Hauser, Elena V. Semina

    منشور في 2014
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    Artigo
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  3. 3
    Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

    Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes حسب Shawna M. Pyott, Ulrike Schwarze, Helena E. Christiansen, Melanie Pepin, Dru F. Leistritz, Richard Dineen, Catharine Harris, Barbara K. Burton, Brad Angle, Katherine Kim, Michael D. Sussman, MaryAnn Weis, David R. Eyre, David W. Russell, Kevin McCarthy, Robert D. Steiner, Peter H. Byers

    منشور في 2011
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    Artigo
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  4. 4
    Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

    Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring حسب Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo, Georg Christoph Korenke, Saadet Mercimek‐Mahmutoglu, Iris Marquart, Bruce A. Barshop, Christiane Grolik, Andrea Schlune, Brad Angle, Helena Caldeira, Turgay Coşkun, Luísa Diogo, Michael T. Geraghty, Göknur Haliloğlu, Vassiliki Konstantopoulou, Vincenzo Leuzzi, Alina Levtova, Jennifer MacKenzie, Bruno Maranda, Aizeddin A. Mhanni, Grant A. Mitchell, Andrew A. M. Morris, Theresa Newlove, Deborah L. Renaud, Fernando Scaglia, Vassili Valayannopoulos, Francjan J. van Spronsen, K. T. Verbruggen, Nataliya Yuskiv, William L. Nyhan, Andreas Schulze

    منشور في 2013
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    Artigo
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  5. 5
    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects حسب Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Ladd, Brad Angle, Hagit Baris, Kıvanç Çefle, Şükrü Palanduz, Şükrü Öztürk, Antoinette Chateau, Kentaro Deguchi, T.K.M Easwar, Antonio Federico, Amy Fox, Theresa A. Grebe, Beverly N. Hay, Sheela Nampoothiri, Karen Seiter, Elizabeth A. Streeten, Raúl E. Piña-Aguilar, Gemma Poke, Martin Poot, Renata Posmyk, George M. Martin, Christian Kubisch, Detlev Schindler, Junko Oshima

    منشور في 2016
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    Revisão
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  6. 6
    Urinary Tract Effects of HPSE2 Mutations

    Urinary Tract Effects of HPSE2 Mutations حسب Helen M. Stuart, Neil Roberts, Emma Hilton, Edward A. McKenzie, Sarah B. Daly, Kristen D. Hadfield, Jeffery S. Rahal, Natalie J. Gardiner, S.W.M. Tanley, Malcolm Lewis, Emily Sites, Brad Angle, Cláudia Alves, Teresa Lourenço, Márcia Rodrigues, Angelina Calado, Marta Perapoch Amadó, Nancy Guerreiro, Inês Serras, Christian Beetz, Rita-Eva Varga, Mesrur Selçuk Sılay, John M. Darlow, Mark G. Dobson, David Barton, Manuela Hunziker, Prem Puri, Sally Feather, Judith A. Goodship, Timothy H.J. Goodship, H Lambert, Heather J. Cordell, Anand Saggar, Maria Kinali, Christian Lorenz, Kristina Moeller, Franz Schaefer, Aysun Karabay Bayazıt, Stefanie Weber, William G. Newman, Adrian S. Woolf

    منشور في 2014
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    Artigo
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  7. 7
    Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

    Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants حسب Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A. Filipink, Juliann McConnell, Brad Angle, Wendy S. Meschino, Marjan M. Nezarati, Alexander Asamoah, Kelly E. Jackson, Gordon C. Gowans, Judith A. Martin, Erin P. Carmany, David W. Stockton, Rhonda E. Schnur, Lynette S. Penney, Donna M. Martin, Salmo Raskin, Kathleen A. Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M. Niyazov, Luis Escobar, Dima El‐Khechen, Kisha Johnson, Robert Roger Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K. Brasington, J. Edward Spence, Laura Martin, Carol L. Clericuzio, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler

    منشور في 2012
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    Artigo
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  8. 8
    Further delineation of the KAT6B molecular and phenotypic spectrum

    Further delineation of the KAT6B molecular and phenotypic spectrum حسب Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Bronwyn Kerr, Ruth Day, Siddharth Banka, Mohnish Suri, Siren Berland, Michael T. Gabbett, Alan Ma, Stanislas Lyonnet, Valérie Cormier‐Daire, Rüstem Yilmaz, Guntram Borck, Dagmar Wieczorek, Britt‐Marie Anderlid, Sarah Smithson, Julie Vogt, Heather Moore-Barton, Pelin Özlem Şimşek‐Kiper, Isabelle Maystadt, Anne Destrèe, Jessica Bucher, Brad Angle, Shehla Mohammed, Emma Wakeling, Sue Price, Amihood Singer, Yves Sznajer, Annick Toutain, Damien Haye, Ruth Newbury‐Ecob, Mélanie Fradin, Julie McGaughran, Beyhan Tüysüz, Mark Tein, Katelijne Bouman, Tabib Dabir, Jenneke van den Ende, Ho‐Ming Luk, Daniela T. Pilz, Jacqueline Eason, Sally Davies, William Reardon, Livia Garavelli, Orsetta Zuffardi, Koenraad Devriendt, Ruth Armstrong, Diana Johnson, Martine Doco‐Fenzy, Emilia Bijlsma, Sheila Unger, Hermine E. Veenstra‐Knol, Jürgen Kohlhase, Ivan F. M. Lo, Janine Smith, Jill Clayton‐Smith

    منشور في 2014
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    Artigo
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