Ngā hua rapu - Eva Lenassi

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  1. 1
    Viewing Ageing Eyes: Diverse Sites of Amyloid Beta Accumulation in the Ageing Mouse Retina and the Up-Regulation of Macrophages

    Viewing Ageing Eyes: Diverse Sites of Amyloid Beta Accumulation in the Ageing Mouse Retina and the Up-Regulation of Macrophages mā Jaimie Hoh Kam, Eva Lenassi, Glen Jeffery

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Complement Component C3 Plays a Critical Role in Protecting the Aging Retina in a Murine Model of Age-Related Macular Degeneration

    Complement Component C3 Plays a Critical Role in Protecting the Aging Retina in a Murine Model of Age-Related Macular Degeneration mā Jaimie Hoh Kam, Eva Lenassi, Talat H. Malik, Matthew C. Pickering, Glen Jeffery

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing mā Heather B. Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda Luxon, Mireille Claustres, Anne‐Françoise Roux, Andrew R. Webster, Maria Bitner‐Glindzicz

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

    A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants mā 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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data mā Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Daniš, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

    Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy mā Panagiotis I. Sergouniotis, Christina Chakarova, Cian Murphy, Mirjana M Becker, Eva Lenassi, Gavin Arno, Monkol Lek, Daniel G. MacArthur, Shomi S. Bhattacharya, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Uwe Wolfrum, Andrew R. Webster, Vincent Plagnol

    I whakaputaina 2014
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    Artigo
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  7. 7
    Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

    Clinical utility of genetic testing in 201 preschool children with inherited eye disorders mā Eva Lenassi, Jill Clayton‐Smith, Sofia Douzgou, Simon Ramsden, Stuart Ingram, Georgina Hall, Claire Hardcastle, Tracy Fletcher, Rachel L. Taylor, Jamie M. Ellingford, William D. Newman, Cecilia Fenerty, Vinod Sharma, Iva Lloyd, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

    Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies mā Malena Daich Varela, James Bellingham, Fabiana Louise Motta, Neringa Jurkutė, Jamie M. Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz‐Kriegl, Karolina Kamińska, Francesca Cancellieri, Hendrik P. N. Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E. Cheetham, Michel Michaelides, Omar A. Mahroo, Anthony T. Moore, Andrew R. Webster, Gavin Arno

    I whakaputaina 2022
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    Artigo
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