检索结果 - Zubin Saihan
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Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update 由 Anthony G. Robson, Michel Michaelides, Zubin Saihan, Alan C. Bird, Andrew R. Webster, Anthony T. Moore, Fred W. Fitzke, Graham E. Holder
出版 2007Revisão -
2
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants 由 Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J. Coffey, Heather B. Steele-Stallard, Anthony T. Moore, Karen P. Steel, Linda Luxon, Elise Héon, Maria Bitner‐Glindzicz, Andrew R. Webster
出版 2015Artigo -
3
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study 由 Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B. Steele-Stallard, John C. Ambrose, Alison J. Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P. Steel, Linda Luxon, Andrew R. Webster, Maria Bitner‐Glindzicz
出版 2011Artigo -
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Development of a genotyping microarray for Usher syndrome 由 F.P.M. Cremers, William J. Kimberling, Maigi Külm, Arjan Pm de Brouwer, Erwin van Wijk, Heleen te Brinke, Cor W. R. J. Cremers, Lies H. Hoefsloot, Sandro Banfi, Francesca Simonelli, Johannes Fleischhauer, Wolfgang Berger, Phillip M. Kelley, Elene Haralambous, Maria Bitner‐Glindzicz, Andrew R. Webster, Zubin Saihan, Elfride De Baere, Bart Leroy, Giuliana Silvestri, Gareth J. McKay, Robert K. Koenekoop, José M. Millán, Thomas Rosenberg, Tarja Joensuu, Eeva‐Marja Sankila, Dominique Weil, Michael D. Weston, Bernd Wissinger, Hannie Kremer
出版 2006Artigo
相关主题
Biology
Retinitis pigmentosa
Gene
Genetics
Medicine
Usher syndrome
Mutation
Pathology
Allele
Audiology
Autofluorescence
Cohort
Compound heterozygosity
Disease
Dystrophy
Electroretinography
Erg
Fluorescence
Frameshift mutation
Fundus (uterus)
Gene expression
Genotype
Genotyping
Hearing loss
Microarray
Missense mutation
Neuroscience
Nonsense mutation
Ophthalmology
Optics