受强制性开放获取政策约束的文章 - Eva Lenassi了解详情
无法在其他位置公开访问的文章：3 篇
The effect of the common c. 2299delG mutation in USH2A on RNA splicing
E Lenassi, Z Saihan, M Bitner-Glindzicz, AR Webster
Experimental eye research 122, 9-12, 2014
强制性开放获取政策： National Institute for Health Research, UK
Clinical heterogeneity in a family with mutations in USH2A
E Lenassi, AG Robson, LM Luxon, M Bitner-Glindzicz, AR Webster
JAMA ophthalmology 133 (3), 352-355, 2015
强制性开放获取政策： National Institute for Health Research, UK
A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course
S Bhattacharjee, E Lenassi, RW Taylor, AM Schaefer, J Ealing, ...
Journal of Neurology 272 (1), 1-3, 2025
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
可在其他位置公开访问的文章：14 篇
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
E Lenassi, A Vincent, Z Li, Z Saihan, AJ Coffey, HB Steele-Stallard, ...
European Journal of Human Genetics 23 (10), 1318-1327, 2015
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
PI Sergouniotis, C Chakarova, C Murphy, M Becker, E Lenassi, G Arno, ...
The American Journal of Human Genetics 94 (5), 760-769, 2014
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
Complement component C3 plays a critical role in protecting the aging retina in a murine model of age-related macular degeneration
JH Kam, E Lenassi, TH Malik, MC Pickering, G Jeffery
The American journal of pathology 183 (2), 480-492, 2013
强制性开放获取政策： Wellcome Trust
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger …
HB Steele-Stallard, P Le Quesne Stabej, E Lenassi, LM Luxon, ...
Orphanet journal of rare diseases 8, 1-11, 2013
强制性开放获取政策： Action on Hearing Loss, UK
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
E Lenassi, J Clayton-Smith, S Douzgou, SC Ramsden, S Ingram, G Hall, ...
Genetics in Medicine 22 (4), 745-751, 2020
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
An improved phenotype-driven tool for rare mendelian variant prioritization: benchmarking exomiser on real patient whole-exome data
V Cipriani, N Pontikos, G Arno, PI Sergouniotis, E Lenassi, P Thawong, ...
Genes 11 (4), 460, 2020
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
OA Jiman, RL Taylor, E Lenassi, JC Smith, S Douzgou, JM Ellingford, ...
European Journal of Human Genetics 28 (5), 576-586, 2020
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
M Daich Varela, J Bellingham, F Motta, N Jurkute, JM Ellingford, ...
Human molecular genetics 32 (4), 595-607, 2023
强制性开放获取政策： Swiss National Science Foundation, Cancer Research UK, UK Medical Research …
Establishing genotype–phenotype correlation in USH2A-related disorders to personalize audiological surveillance and rehabilitation
LP Molina-Ramírez, E Lenassi, JM Ellingford, PI Sergouniotis, ...
Otology & Neurotology 41 (4), 431-437, 2020
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute, National …
Clinical and genetic findings in CTNNA1-associated macular pattern dystrophy
A Tanner, HW Chan, JS Pulido, G Arno, R Ba-Abbad, N Jurkute, ...
Ophthalmology 128 (6), 952-955, 2021
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-associated noncoding variants
DJ Green, E Lenassi, CS Manning, D McGaughey, V Sharma, GC Black, ...
Investigative Ophthalmology & Visual Science 62 (7), 16-16, 2021
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
Persistent placoid maculopathy complicated by cerebral vasculitis.
E Lenassi, M Kojovic, PJ Mekjavic, S Sega, NV Valentincic
Journal of Neuro-Ophthalmology, 2016
强制性开放获取政策： Slovenian Research Agency
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
E Lenassi, A Carvalho, A Thormann, L Abrahams, G Arno, T Fletcher, ...
Journal of Medical Genetics 60 (8), 810-818, 2023
强制性开放获取政策： European Molecular Biology Laboratory, Cancer Research UK, UK Medical …
North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variants
DJ Green, E Lenassi, CS Manning, D McGaughey, V Sharma, GC Black, ...
medRxiv, 2021.03. 05.21252975, 2021
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
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