Výsledky vyhledávání - John R. Heckenlively
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Síndrome de Menkes: novos achados oculares Autor Rosane C. Ferreira, John R. Heckenlively, John H. Menkes, J. Bronwyn Bateman
Vydáno 1997Artigo -
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Melanoma-Associated Retinopathy Autor Ying Lu, Lin Jia, Shirley He, Mary C. Hurley, Monique Leys, Thiran Jayasundera, John R. Heckenlively
Vydáno 2009Artigo -
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Clinical and Electrophysiologic Characterization of Paraneoplastic and Autoimmune Retinopathies Associated With Antienolase Antibodies Autor Richard G. Weleber, Robert C. Watzke, William T. Shults, Karmen M Trzupek, John R. Heckenlively, Robert A. Egan, Grazyna Adamus
Vydáno 2005Artigo -
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Rescue of retinal degeneration by intravitreally injected adult bone marrow–derived lineage-negative hematopoietic stem cells Autor Atsushi Otani, Michael I. Dorrell, Karen Kinder, Stacey K. Moreno, Steven Nusinowitz, Eyal Banin, John R. Heckenlively, Martin Friedlander
Vydáno 2004Artigo -
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Rescue of retinal degeneration by intravitreally injected adult bone marrow–derived lineage-negative hematopoietic stem cells Autor Atsushi Otani, Michael I. Dorrell, Karen Kinder, Stacey K. Moreno, Steven Nusinowitz, Eyal Banin, John R. Heckenlively, Martin Friedlander
Vydáno 2004Artigo -
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Mutations in the<i>GUCA1A</i>gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase Autor Veronique Kitiratschky, Petra Behnen, Ulrich Kellner, John R. Heckenlively, Eberhart Zrenner, Herbert Jägle, Susanne Kohl, Bernd Wissinger, Karl‐Wilhelm Koch
Vydáno 2009Artigo -
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Ablation of the X-Linked Retinitis Pigmentosa 2 (<i>Rp2</i>) Gene in Mice Results in Opsin Mislocalization and Photoreceptor Degeneration Autor Linjing Li, Naheed W. Khan, Toby W. Hurd, Amiya K. Ghosh, Christiana L. Cheng, Robert S. Molday, John R. Heckenlively, Anand Swaroop, Hemant Khanna
Vydáno 2013Artigo -
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A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene Autor Melanie M. Sohocki, Lori S. Sullivan, Helen A. Mintz-Hittner, David G. Birch, John R. Heckenlively, Carol L. Freund, Roderick R. McInnes, Stephen P. Daiger
Vydáno 1998Artigo -
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Mutations in the X-Linked Retinitis Pigmentosa Genes<i>RPGR</i>and<i>RP2</i>Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa Autor Jennifer D. Churchill, Sara J. Bowne, Lori S. Sullivan, Richard A. Lewis, Dianna K. Wheaton, David G. Birch, Kari Branham, John R. Heckenlively, Stephen P. Daiger
Vydáno 2013Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Retinal
Retinitis pigmentosa
Ophthalmology
Mutation
Retinal degeneration
Biochemistry
Phenotype
Neuroscience
Pathology
Internal medicine
Macular degeneration
Missense mutation
Molecular biology
Retina
Immunology
Electroretinography
Genotype
Mutant
Allele
Exon
Proband
Cell biology
Rhodopsin
Endocrinology
Exome sequencing
Genetic heterogeneity