Hasil Pencarian - Jilly Hope

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  1. 1
    Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

    Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. oleh Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick

    Diterbitkan 2021-01-01
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  2. 2
    Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

    Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. oleh Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M Zameel Cader, Sarah Hughes, Richard J E Armstrong, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C Taylor, David Bentley, Gilean McVean, Peter Donnelly, Samantha J L Knight, Mandy Jackson, Jiannis Ragoussis, Andrea H Németh

    Diterbitkan 2012-01-01
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