Результаты поиска - Elias I. Traboulsi

Отмена результатов
  1. 1
    Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)

    Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type) по Dean Eliott, Elias I. Traboulsi, Irene H. Maumenee

    Опубликовано 1993
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    Artigo
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  2. 2
    Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management

    Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management по Hashem Ghoraba, Jonathan E. Sears, Elias I. Traboulsi

    Опубликовано 2025
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    Revisão
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  3. 3
    The Natural History of Leber's Congenital Amoaurosis

    The Natural History of Leber's Congenital Amoaurosis по Katrinka L. Heher, Elias I. Traboulsi, Irene H. Maumenee

    Опубликовано 1992
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    Artigo
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  4. 4
    A Clinicopathologic Study of the Eyes in Familial Adenomatous Polyposis by Extracolonic Manifestations (Gardner's Syndrome)

    A Clinicopathologic Study of the Eyes in Familial Adenomatous Polyposis by Extracolonic Manifestations (Gardner's Syndrome) по Elias I. Traboulsi, Sean F. Murphy, Zenaida C. de la Cruz, Irene H. Maumenee, W. Richard Green

    Опубликовано 1990
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    Artigo
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  5. 5
    A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

    A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region по Ovidiu C. Trifan, Elias I. Traboulsi, Diliana Stoilova, Ihuoma Alozie, Randall L Nguyen, Sharath C. Raja, Mansoor Sarfarazi

    Опубликовано 1998
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    Artigo
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  6. 6
    ADAMTSL4, a Secreted Glycoprotein Widely Distributed in the Eye, Binds Fibrillin-1 Microfibrils and Accelerates Microfibril Biogenesis

    ADAMTSL4, a Secreted Glycoprotein Widely Distributed in the Eye, Binds Fibrillin-1 Microfibrils and Accelerates Microfibril Biogenesis по Luís Alexandre Rassi Gabriel, Lauren W. Wang, Hannah L. Bader, Jason Ho, Alana K. Majors, Joe G. Hollyfield, Elias I. Traboulsi, Suneel Apte

    Опубликовано 2011
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    Artigo
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  7. 7
    A Novel<i>KCNJ13</i>Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

    A Novel<i>KCNJ13</i>Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16) по Bikash R. Pattnaik, Pawan K. Shahi, Meghan J. Marino, Xinying Liu, N York, Simran Brar, John Chiang, De‐Ann M. Pillers, Elias I. Traboulsi

    Опубликовано 2015
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    Artigo
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  8. 8
    Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration

    Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration по Lihua Y. Marmorstein, Francis L. Munier, Yvan Arsenijévic, Daniel F. Schorderet, Precious J. McLaughlin, Daniel C. Chung, Elias I. Traboulsi, Alan D. Marmorstein

    Опубликовано 2002
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    Artigo
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  9. 9
    ADAMTS10 Protein Interacts with Fibrillin-1 and Promotes Its Deposition in Extracellular Matrix of Cultured Fibroblasts

    ADAMTS10 Protein Interacts with Fibrillin-1 and Promotes Its Deposition in Extracellular Matrix of Cultured Fibroblasts по Wendy E. Kutz, Lauren W. Wang, Hannah L. Bader, Alana K. Majors, Kazushi Iwata, Elias I. Traboulsi, Lynn Y. Sakai, Douglas R. Keene, Suneel Apte

    Опубликовано 2011
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    Artigo
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  10. 10
    X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

    X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15 по F. Yesim Demirci, Brian W. Rigatti, Gaiping Wen, Amy L. Radak, Tammy S. Mah, Corrine L. Baic, Elias I. Traboulsi, Tiina Alitalo, Juliane Ramser, Michael B. Gorin

    Опубликовано 2002
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    Artigo
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  11. 11
    Nonselective Assembly of Fibrillin 1 and Fibrillin 2 in the Rodent Ocular Zonule and in Cultured Cells: Implications for Marfan Syndrome

    Nonselective Assembly of Fibrillin 1 and Fibrillin 2 in the Rodent Ocular Zonule and in Cultured Cells: Implications for Marfan Syndrome по Lauren C. Beene, Lauren W. Wang, Dirk Hubmacher, Douglas R. Keene, Dieter P. Reinhardt, Douglas S. Annis, Deane F. Mosher, Robert P. Mecham, Elias I. Traboulsi, Suneel Apte

    Опубликовано 2013
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    Artigo
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  12. 12
    Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

    Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome по Nisha Patel, Arif O. Khan, Ahmad M. Mansour, Jawahir Y. Mohamed, Abdullah Al-Assiri, Randa Haddad, Xiaofei Jia, Yong Xiong, André Mégarbané, Elias I. Traboulsi, Fowzan S. Alkuraya

    Опубликовано 2014
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    Artigo
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  13. 13
    Effective gene therapy of Stargardt disease with PEG-ECO/pGRK1-ABCA4-S/MAR nanoparticles

    Effective gene therapy of Stargardt disease with PEG-ECO/pGRK1-ABCA4-S/MAR nanoparticles по Da Sun, Wenyu Sun, Songqi Gao, Jonathan Lehrer, Amirreza Naderi, Cheng Wei, Sang-Joon Lee, Andrew L. Schilb, Josef H. Scheidt, Ryan Hall, Elias I. Traboulsi, Krzysztof Palczewski, Zheng‐Rong Lu

    Опубликовано 2022
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    Artigo
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  14. 14
    Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290

    Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290 по J. Jason McAnany, Mohamed A. Genead, Saloni Walia, Arlene V. Drack, Edwin M. Stone, Robert K. Koenekoop, Elias I. Traboulsi, Alison S. Smith, Richard G. Weleber, Samuel G. Jacobson, Gerald A. Fishman

    Опубликовано 2013
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    Artigo
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  15. 15
    Extreme hyperopia is the result of null mutations in<i>MFRP</i>, which encodes a Frizzled-related protein

    Extreme hyperopia is the result of null mutations in<i>MFRP</i>, which encodes a Frizzled-related protein по Olof Sundin, Gregory S. Leppert, Eduardo Silva, Jun-Ming Yang, Sharola Dharmaraj, Irene H. Maumenee, Luísa Coutinho Santos, Cameron F. Parsa, Elias I. Traboulsi, Karl W. Broman, Cathy DiBernardo, Janet S. Sunness, Jeffrey Toy, Ethan M. Weinberg

    Опубликовано 2005
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    Artigo
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  16. 16
    Identifying photoreceptors in blind eyes caused by <i>RPE65</i> mutations: Prerequisite for human gene therapy success

    Identifying photoreceptors in blind eyes caused by <i>RPE65</i> mutations: Prerequisite for human gene therapy success по Samuel G. Jacobson, Tomas S. Alemán, Artur V. Cideciyan, Alexander Sumaroka, Sharon Schwartz, Elizabeth A. M. Windsor, Elias I. Traboulsi, Elise Héon, Steven J. Pittler, Ann H. Milam, Albert M. Maguire, Krzysztof Palczewski, Edwin M. Stone, Jean Bennett

    Опубликовано 2005
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    Artigo
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  17. 17
    Outcomes of Unilateral Cataracts in Infants and Toddlers 7 to 24 Months of Age

    Outcomes of Unilateral Cataracts in Infants and Toddlers 7 to 24 Months of Age по Erick D. Bothun, M. Edward Wilson, Elias I. Traboulsi, Nancy N. Diehl, David A. Plager, Deborah K. VanderVeen, Sharon F. Freedman, Kimberly G. Yen, Natalie C. Weil, Allison R. Loh, David G. Morrison, Jill S. Anderson, Scott R. Lambert, Scott R. Lambert, Amy K. Hutchinson, Stephen P. Christiansen, Erick D. Bothun, Ed Wilson, Elias I. Traboulsi, David A. Plager, Daniel E. Neely, Deborah K. VanderVeen, Ed Buckley, Sharon F. Freedman, David K. Wallace, Kimberly G. Yen, David T. Wheeler, David G. Morrison

    Опубликовано 2019
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    Artigo
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  18. 18
    Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

    Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome по Edwin M. Stone, Artur V. Cideciyan, Tomas S. Aleman, Todd E. Scheetz, Alexander Sumaroka, Mary A. Ehlinger, Sharon Schwartz, Gerald A. Fishman, Elias I. Traboulsi, Byron L. Lam, Anne B. Fulton, Robert F. Mullins, Val C. Sheffield, Samuel G. Jacobson

    Опубликовано 2011
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    Artigo
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  19. 19
    Outcomes of Bilateral Cataracts Removed in Infants 1 to 7 Months of Age Using the Toddler Aphakia and Pseudophakia Treatment Study Registry

    Outcomes of Bilateral Cataracts Removed in Infants 1 to 7 Months of Age Using the Toddler Aphakia and Pseudophakia Treatment Study Registry по Erick D. Bothun, M. Edward Wilson, Deborah K. VanderVeen, David A. Plager, Sharon F. Freedman, Rupal H. Trivedi, Elias I. Traboulsi, Jill S. Anderson, Allison R. Loh, Kimberly G. Yen, Natalie C. Weil, David G. Morrison, Scott R. Lambert

    Опубликовано 2019
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    Artigo
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  20. 20
    APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis.

    APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. по Francis M. Giardiello, G. M. Petersen, Steven Piantadosi, Stephen B. Gruber, Elias I. Traboulsi, G. Johan A. Offerhaus, Kenji Muro, Anne J. Krush, Susan V. Booker, Michael C. Luce, Steven J. Laken, Kenneth W. Kinzler, Bert Vogelstein, Stanley R. Hamilton

    Опубликовано 1997
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    Artigo
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