검색어 : 통합검색[Hughes Edwin]
총 447건 중 447건 출력
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341
- Molecular Basis for Synaptotagmin-1-Associated Neurodevelopmental Disorder
- Bradberry, Mazdak M.; Courtney, Nicholas A.; Dominguez, Matthew J.; Lofquist, Sydney M.; Knox, Andrew T.; Sutton, R. Bryan; Chapman, Edwin R.; Howard Hughes Medical Institute and Department of Neuroscience, University of Wisconsin School of Medicine and Public Health; Howard Hughes Medical Institute and Department of Neuroscience, University of Wisconsin School of Medicine and Public Health; Department of Cell Physiology and Molecular Biophysics and Center for Membrane Protein Research, Texas Tech University Health Sciences Center; Howard Hughes Medical Institute and Department of Neuroscience, University of Wisconsin School of Medicine and Public Health; Department of Neurology, Section of Pediatric Neurology, University of Wisconsin School of Medicine and Public Health; Department of Cell Physiology and Molecular Biophysics and Center for Membrane Protein Research, Texas Tech University Health Sciences Center; Howard Hughes Medical Institute and Department of Neuroscience, Universit; (Neuron, v.107, 2020, pp.52-64.e7)
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342
- Clinical phenotypes in carriers of Leber congenital amaurosis mutations
- Galvin, Jennifer A.; Fishman, Gerald A.; Stone, Edwin M.; Koenekoop, Robert K.; ; (Ophthalmology, v.112, 2005, pp.349-356)
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343
- Screening for Mutations of Axenfeld-Rieger Syndrome Caused by FOXC1 Gene in Japanese Patients
- Kawase, Chizuru; Kawase, Kazuhide; Taniguchi, Toru; Sugiyama, Kazuhisa; Yamamoto, Tetsuya; Kitazawa, Yoshiaki; Alward, Wallace L. M.; Stone, Edwin M.; Nishimura, Darryl Y.; Sheffield, Val C.; Department of Ophthalmology, Gifu University School of Medicine, Gifu, Japan; Departments of Ophthalmology, Pediatrics, and the Howard Hughes Medical Institute, The University of Iowa College of Medicine, Iowa City, Iowa; (Journal of glaucoma, v.10, 2001, pp.477-482)
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344
- Lumpers or Splitters? The Role of Molecular Diagnosis in Leber Congenital Amaurosis
- Traboulsi, Elias I.; Koenekoop, Robert; Stone, Edwin M.; The Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA; McGill Ocular Genetics Laboratory, Montreal Children's Hospital Research Institute, McGill University Health Center, Montreal, Quebec, Canada; The University of Iowa Carver College of Medicine and the Howard Hughes Medical Institute, Iowa City, IA, USA; (Ophthalmic genetics, v.27, 2006, pp.113-115)
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345
- Genetic Analysis of PITX2 and FOXC1 in Rieger Syndrome Patients From Brazil
- Borges, Adriana Silva; Susanna Junior, Remo; Carani, José Carlos Eudes; Betinjane, Alberto J.; Alward, Wallace L.; Stone, Edwin M.; Sheffield, Val C.; Nishimura, Darryl Y.; Department of Ophthalmology and Otorrinolaryngology, Glaucoma Service University of Sã o Paulo, Sã o Paulo, Brazil; and Departments of Ophthalmology and Pediatrics, Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa; (Journal of glaucoma, v.11, 2002, pp.51-56)
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346
- Generation and Characterization of LANP/pp32 Null Mice
- Opal, Puneet; Garcia, Jesus J.; McCall, Alanna E.; Xu, Bisong; Weeber, Edwin J.; Sweatt, J. David; Orr, Harry T.; Zoghbi, Huda Y.; Departments of Neurology; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas; Molecular and Human Genetics; Molecular and Human Genetics; Neuroscience; Neuroscience; Departments of Laboratory Medicine and Pathology and Biochemistry and Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota; Departments of Neurology; (Molecular and cellular biology, v.24, 2004, pp.3140-3149)
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347
- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
- Mykytyn, Kirk; Nishimura, Darryl Y.; Searby, Charles C.; Shastri, Mythreyi; Yen, Hsan-jan; Beck, John S.; Braun, Terry; Streb, Luan M.; Cornier, Alberto S.; Cox, Gerald F.; Fulton, Anne B.; Carmi, Rivka; Lü leci, Gü ven; Chandrasekharappa, Settara C.; Collins, Francis S.; Jacobson, Samuel G.; Heckenlively, John R.; Weleber, Richard G.; Stone, Edwin M.; Sheffield, Val C.; Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA.; Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA.; Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA.; Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA.; Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA.; Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA.; Department of Electrical Engineering, University of Iowa, Iowa City, Iowa 52242, USA.; Department of Ophthalmology, Univers; (Nature genetics, v.31, 2002, pp.435-438)
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348
- Topical Ocular Sodium 4-Phenylbutyrate Rescues Glaucoma in a Myocilin Mouse Model of Primary Open-Angle Glaucoma
- Zode, Gulab S.; Bugge, Kevin E.; Mohan, Kabhilan; Grozdanic, Sinisa D.; Peters, Joseph C.; Koehn, Demelza R.; Anderson, Michael G.; Kardon, Randy H.; Stone, Edwin M.; Sheffield, Val C.; From the Howard Hughes Medical Institute, and the Departments of 2Pediatrics,; From the Howard Hughes Medical Institute, and the Departments of 2Pediatrics,; the Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Iowa State University, Ames, Iowa.; the Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Iowa State University, Ames, Iowa.; the Departments of Pediatrics,; Molecular Physiology and Biophysics, and; Molecular Physiology and Biophysics, and 5Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa; and; Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa; and the 3Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Iowa State University, Ames, Iowa.; From the Howard Hughes Medical Institute, and 5Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa; and; From the Howard Hughes Medical Institute, and the Departments of 2Pediatrics, 5Ophthalmolog; (Investigative ophthalmology & visual science, v.53, 2012, pp.1557)
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349
- Structural basis of cell surface receptor recognition by botulinum neurotoxin B
- Chai, Qing; Arndt, Joseph W.; Dong, Min; Tepp, William H.; Johnson, Eric A.; Chapman, Edwin R.; Stevens, Raymond C.; [1] Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torrey Pines Road, La Jolla, California 92037, USA [2] These authors contributed equally to this work.; [1] Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torrey Pines Road, La Jolla, California 92037, USA [2] These authors contributed equally to this work.; [1] Howard Hughes Medical Institute and Department of Physiology, 1300 University Avenue [2] Howard Hughes Medical Institute and Department of Physiology, 1300 University Avenue [3] These authors contributed equally to this work.; Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torrey Pines Road, La Jolla, California 92037, USA; Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torrey Pines Road, La Jolla, California 92037, USA; [1] Howard Hughes Medical Institute and Department of Physiology, 1300 University Avenue [2] Howard Hughes Medical Institute and Department of Physi; (Nature, v.444, 2006, pp.1096-1100)
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350
- COMPARISON OF DRUSEN AND MODIFYING GENES IN AUTOSOMAL DOMINANT RADIAL DRUSEN AND AGE-RELATED MACULAR DEGENERATION
- Sohn, Elliott H.; Wang, Kai; Thompson, Stewart; Riker, Megan J.; Hoffmann, Jeremy M.; Stone, Edwin M.; Mullins, Robert F.; *Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa; Departments of †Ophthalmology and Visual Sciences, and ‡Biostatistics, University of Iowa, Iowa City, Iowa; and §The Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa.; (Retina, v.35, 2015, pp.48-57)
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