Hasil Pencarian - Susan Downes

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  1. 1
    Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa

    Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa oleh Hajrah Sarkar, Adam M. Dubis, Adam M. Dubis, Susan Downes, Mariya Moosajee, Mariya Moosajee, Mariya Moosajee

    Diterbitkan 2020-04-01
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  2. 2
    Phenogenon: Gene to phenotype associations for rare genetic diseases.

    Phenogenon: Gene to phenotype associations for rare genetic diseases. oleh Nikolas Pontikos, Cian Murphy, Ismail Moghul, Gavin Arno, Kaoru Fujinami, Yu Fujinami, Dayyanah Sumodhee, Susan Downes, Andrew Webster, Jing Yu, UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium

    Diterbitkan 2020-01-01
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  3. 3
    A randomised controlled trial to assess the clinical effectiveness and cost-effectiveness of alternative treatments to Inhibit VEGF in Age-related choroidal Neovascularisation (IVAN)

    A randomised controlled trial to assess the clinical effectiveness and cost-effectiveness of alternative treatments to Inhibit VEGF in Age-related choroidal Neovascularisation (IVA... oleh Usha Chakravarthy, Simon P Harding, Chris A Rogers, Susan Downes, Andrew J Lotery, Helen A Dakin, Lucy Culliford, Lauren J Scott, Rachel L Nash, Jodi Taylor, Alyson Muldrew, Jayashree Sahni, Sarah Wordsworth, James Raftery, Tunde Peto, Barnaby C Reeves, for the IVAN Investigators

    Diterbitkan 2015-10-01
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  4. 4
    The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

    The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision oleh Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux

    Diterbitkan 2022-11-01
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