Zoekresultaten - Elise Héon
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Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused by<i>RPE65</i>Mutations door Samuel G. Jacobson, Artur V. Cideciyan, Tomas S. Alemán, Alexander Sumaroka, Elizabeth A. M. Windsor, Sharon Schwartz, Elise Héon, Edwin M. Stone
Gepubliceerd in 2008Artigo -
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Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives door Alexandra V. Garafalo, Artur V. Cideciyan, Elise Héon, Rebecca Sheplock, Alexander Pearson, Caberry W. Yu, Alexander Sumaroka, Gustavo D. Aguirre, Samuel G. Jacobson
Gepubliceerd in 2019Revisão -
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Defining the Residual Vision in Leber Congenital Amaurosis Caused by<i>RPE65</i>Mutations door Samuel G. Jacobson, Tomas S. Alemán, Artur V. Cideciyan, Alejandro J. Román, Alexander Sumaroka, Elizabeth A. M. Windsor, Sharon Schwartz, Elise Héon, Edwin M. Stone
Gepubliceerd in 2009Artigo -
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Spondyloocular Syndrome: Novel Mutations in <i>XYLT2</i> Gene and Expansion of the Phenotypic Spectrum door Fulya Taylan, Alice Costantini, Nicole Coles, Minna Pekkinen, Elise Héon, Zeynep Şıklar, Merih Berberoğlu, Anders Kämpe, Ertuğrul Kıykım, Giedre Grigelioniené, Beyhan Tüysüz, Outi Mäkitie
Gepubliceerd in 2016Artigo -
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Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly door Andrea L. Vincent, Gail Billingsley, Megan Priston, Donna Williams-Lyn, Joanne Sutherland, Thomas Gläser, Edward R. Oliver, Michael A. Walter, Godfrey Heathcote, Alex V. Levin, Elise Héon
Gepubliceerd in 2001Carta -
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Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1 door Sharareh Monemi, George L. Spaeth, A. DaSilva, Samuel Popinchalk, E. Ilitchev, Jeffrey M. Liebmann, Robert Ritch, Elise Héon, Ronald P. Crick, Anne H. Child, Mansoor Sarfarazi
Gepubliceerd in 2005Artigo -
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Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction door Katarína Štingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfride De Baere, Salmo Raskin, Mário Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger
Gepubliceerd in 2022Artigo -
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Mutational screening of VSX1 in keratoconus patients from the European population door Durga Prasad Dash, Sonia George, Dominic O'Prey, D. T. BURNS, S Nabili, Ursula M. Donnelly, Alison Hughes, Giuliana Silvestri, Jonathan Jackson, D. G. Frazer, Elise Héon, Colin E. Willoughby
Gepubliceerd in 2009Artigo -
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CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia door Gail Billingsley, Sathiyavedu Thyagarajan Santhiya, Andrew D. Paterson, Koji Ogata, Shoshana J. Wodak, Sayed Mohsen Hosseini, Shyam Manohar Manisastry, P Vijayalakshmi, Pudhiya Mundyat Gopinath, Jochen Graw, Elise Héon
Gepubliceerd in 2006Artigo -
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New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17 door Prasuna Paluru, Shawn M. Ronan, Elise Héon, Marcella Devoto, Scott C. Wildenberg, Genaro S. Scavello, Ann M. Holleschau, Outi Ma ̈kitie, William G. Cole, Richard A. King, Terri L. Young
Gepubliceerd in 2003Artigo
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Gerelateerde Onderwerpen
Biology
Genetics
Gene
Medicine
Ophthalmology
Retinal
Mutation
Phenotype
Neuroscience
Retinal degeneration
Biochemistry
Internal medicine
Pathology
Missense mutation
Retina
Bioinformatics
Locus (genetics)
Electroretinography
Retinitis pigmentosa
Allele
Cis-trans-Isomerases
Computational biology
Exon
Genotype
Isomerase
Nonsense mutation
Peptidylprolyl isomerase
RPE65
Retinal pigment epithelium
Computer science