检索结果 - Julia E. Richards
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Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively 由 Debra A. Thompson, Christina L. McHenry, Yun Li, Julia E. Richards, Mohammad Othman, E. Schwinger, Douglas Vollrath, Samuel G. Jacobson, Andreas Gal
出版 2002Artigo -
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Autosomal Dominant Nanophthalmos (NNO1) with High Hyperopia and Angle-Closure Glaucoma Maps to Chromosome 11 由 Mohammad Othman, Scot A. Sullivan, Gregory L. Skuta, David Cockrell, Heather M. Stringham, Catherine A. Downs, Alison Fornés, Andrew B. Mick, Michael Boehnke, Douglas Vollrath, Julia E. Richards
出版 1998Artigo -
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Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration 由 Sepideh Zareparsi, Monika Buraczyńska, Kari Branham, Sapna Shah, Donna Eng, Mingyao Li, Hemant Pawar, Beverly M. Yashar, Sayoko E. Moroi, Paul R. Lichter, Howard R. Petty, Julia E. Richards, Gonçalo R. Abecasis, Victor M. Elner, Anand Swaroop
出版 2005Artigo -
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Investigation of Known Genetic Risk Factors for Primary Open Angle Glaucoma in Two Populations of African Ancestry 由 Yutao Liu, Michael A. Hauser, Stephen Akafo, Xuejun Qin, Shiroh Miura, Jason Gibson, Joshua Wheeler, Douglas Gaasterland, Pratap Challa, Leon W. Herndon, Robert Ritch, Sayoko E. Moroi, Louis R. Pasquale, Christopher A. Girkin, Donald L. Budenz, Janey L. Wiggs, Julia E. Richards, Allison E. Ashley‐Koch, R. Rand Allingham
出版 2013Artigo -
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Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease 由 Gonçalo R. Abecasis, Beverly M. Yashar, Yu Zhao, Noor M. Ghiasvand, Sepideh Zareparsi, Kari Branham, Adam C. Reddick, Edward H. Trager, Shigeo Yoshida, John Bahling, Elena V. Filippova, Victor M. Elner, Mark W. Johnson, Andrew K. Vine, Paul A. Sieving, Samuel G. Jacobson, Julia E. Richards, Anand Swaroop
出版 2004Artigo -
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Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation 由 Maja Bućan, Michael Zimmer, William L. Whaley, Annemarie Poustka, S Youngman, Bernice A. Allitto, Elizabeth Ormondroyd, Barbara A. Smith, Thomas Pohl, Marcy E. MacDonald, Gillian P. Bates, Julia E. Richards, Stefano Volinia, T. Conrad Gilliam, Zdeněk Sedláček, Francis S. Collins, John J. Wasmuth, Duncan J. Shaw, James F. Gusella, A-M. Frischauf, Hans Lehrach
出版 1990Artigo -
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Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells 由 Charles M. Krafchak, Hemant Pawar, Sayoko E. Moroi, Alan Sugar, Paul R. Lichter, David A. Mackey, Shahzad I. Mian, Theresa M Nairus, Victor M. Elner, Miriam T Schteingart, Catherine A. Downs, Theresa Guckian Kijek, Jenae M. Johnson, Edward H. Trager, Frank W. Rozsa, Md Nawajes A. Mandal, Michael P. Epstein, Douglas Vollrath, Radha Ayyagari, Michael Boehnke, Julia E. Richards
出版 2005Artigo -
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Genome-Wide Analysis of Central Corneal Thickness in Primary Open-Angle Glaucoma Cases in the NEIGHBOR and GLAUGEN Consortia 由 Megan Ulmer, Jun Li, Brian L. Yaspan, Ayse Bilge Ozel, Julia E. Richards, Sayoko E. Moroi, Felicia Hawthorne, Donald L. Budenz, David S. Friedman, Douglas Gaasterland, Jonathan L. Haines, Jae H. Kang, Richard S. Lee, Paul R. Lichter, Yutao Liu, Louis R. Pasquale, Margaret A. Pericak‐Vance, Anthony Realini, Joel S. Schuman, Kuldev Singh, Douglas Vollrath, Robert N. Weinreb, Gadi Wollstein, Donald J. Zack, Kang Zhang, Terri L. Young, R. Rand Allingham, Janey L. Wiggs, Allison E. Ashley‐Koch, Michael A. Hauser
出版 2012Artigo -
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice 由 Sarah J. Garnai, Michelle L. Brinkmeier, Ben Emery, Tomas S. Alemán, Louise C. Pyle, Biliana O. Veleva-Rotse, Robert A. Sisk, Frank W. Rozsa, Ayse Bilge Ozel, Jun Z. Li, Sayoko E. Moroi, Steven M. Archer, Cheng‐mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James A. Eadie, Jill Urquhart, Graeme Black, Mohammad Othman, Michael Boehnke, Scot A. Sullivan, Gregory L. Skuta, Hemant Pawar, Alexander Katz, Laryssa A. Huryn, Robert B. Hufnagel, Sally A. Camper, Julia E. Richards, Lev Prasov
出版 2019Artigo -
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<i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activation 由 Lev Prasov, Brenda L. Bohnsack, Antonette Souto El Husny, Lam C. Tsoi, Bin Guan, J. Michelle Kahlenberg, Edmundo Frota de Almeida, Haitao Wang, Edward W. Cowen, Adriana A. de Jesus, Priyam Jani, Allison C. Billi, Sayoko E. Moroi, Rachael Wasikowski, Izabela Almeida, Luciana Negrão Frota de Almeida, Fernando Kok, Sarah J. Garnai, Shahzad I. Mian, Marcus Y. Chen, Blake M. Warner, Carlos R. Ferreira, Raphaela Goldbach‐Mansky, Sun Hur, Brian P. Brooks, Julia E. Richards, Robert B. Hufnagel, Jóhann E. Guðjónsson
出版 2021Artigo -
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CDKN2B-AS1 Genotype–Glaucoma Feature Correlations in Primary Open-Angle Glaucoma Patients From the United States 由 Louis R. Pasquale, Stephanie Loomis, Jae H. Kang, Brian L. Yaspan, Wael Abdrabou, Donald L. Budenz, Teresa C. Chen, E. DelBono, David S. Friedman, Douglas Gaasterland, Terry Gaasterland, Cynthia L. Grosskreutz, Richard K. Lee, Paul R. Lichter, Yutao Liu, Catherine A. McCarty, Sayoko E. Moroi, Lana M. Olson, Tony Realini, Douglas J. Rhee, Joel S. Schuman, Kuldev Singh, Douglas Vollrath, Gadi Wollstein, Donald J. Zack, R. Rand Allingham, Margaret A. Pericak‐Vance, Robert N. Weinreb, Kang Zhang, Michael A. Hauser, Julia E. Richards, Jonathan L. Haines, Janey L. Wiggs
出版 2012Artigo -
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The NEIGHBOR Consortium Primary Open-Angle Glaucoma Genome-wide Association Study 由 Janey L. Wiggs, Michael A. Hauser, Wael Abdrabou, Robert Rand Allingham, Donald L. Budenz, E. DelBono, David S. Friedman, Jae H. Kang, Douglas Gaasterland, Terry Gaasterland, Richard K. Lee, Paul R. Lichter, Stephanie Loomis, Yutao Liu, Catherine A. McCarty, Felipe A. Medeiros, Sayoko E. Moroi, Lana M. Olson, Anthony Realini, Julia E. Richards, Frank W. Rozsa, Joel S. Schuman, Kuldev Singh, Joshua D. Stein, Douglas Vollrath, Robert N. Weinreb, Gadi Wollstein, Brian L. Yaspan, Sachiko Yoneyama, Donald J. Zack, Kang Zhang, Margaret A. Pericak‐Vance, Louis R. Pasquale, Jonathan L. Haines
出版 2012Artigo -
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Genome-wide association study and meta-analysis of intraocular pressure 由 Ayse Bilge Ozel, Sayoko E. Moroi, David M. Reed, Melisa Nika, Caroline M. Schmidt, Sara Akbari, Kathleen M. Scott, Frank W. Rozsa, Hemant Pawar, David C. Musch, Paul R. Lichter, Doug Gaasterland, Kari Branham, Jesse Gilbert, Sarah J. Garnai, Wei Chen, Mohammad Othman, John R. Heckenlively, Anand Swaroop, Gonçalo R. Abecasis, David S. Friedman, Donald J. Zack, Allison E. Ashley‐Koch, Megan Ulmer, Jae H. Kang, Yutao Liu, Brian L. Yaspan, Jonathan L. Haines, R. Rand Allingham, Michael A. Hauser, Louis R. Pasquale, Janey L. Wiggs, Julia E. Richards, Jun Z. Li
出版 2013Revisão
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