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Fragmenstein: predicting protein–ligand structures of compounds derived from known crystallographic fragment hits using a strict conserved-binding–based methodology by Matteo P. Ferla, Rubén Sánchez-García, Rachael E. Skyner, Stefan Gahbauer, Jenny C. Taylor, Frank von Delft, Brian D. Marsden, Charlotte M. Deane
Published 2025-01-01Get full text
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Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service. by Angela Hamblin, Sarah Wordsworth, Jilles M Fermont, Suzanne Page, Kulvinder Kaur, Carme Camps, Pamela Kaisaki, Avinash Gupta, Denis Talbot, Mark Middleton, Shirley Henderson, Anthony Cutts, Dimitrios V Vavoulis, Nick Housby, Ian Tomlinson, Jenny C Taylor, Anna Schuh
Published 2017-02-01Get full text
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Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis. by Pamela J Kaisaki, Anthony Cutts, Niko Popitsch, Carme Camps, Melissa M Pentony, Gareth Wilson, Suzanne Page, Kulvinder Kaur, Dimitris Vavoulis, Shirley Henderson, Avinash Gupta, Mark R Middleton, Ioannis Karydis, Ioannis Karydis, Denis C Talbot, Anna Schuh, Jenny C Taylor
Published 2016-01-01Get full text
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4
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. by 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
Published 2012-01-01Get full text
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5
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans by Akiko Soneda Hashimoto, Jianshi Yu, Christina Williams, Karin Gaudenz, Parisa Varshosaz, Ruonan Zhao, Nageswara Pilli, Tian Liu, Jonathon Russell, Rebecca S. Tooze, Stephen R.F. Twigg, Siddharth Banka, Elizabeth Sweeney, Simon J. McGowan, Samantha J.L. Knight, Jenny C. Taylor, Tawfiq Jamal Froukh, M. Irene Valenzuela Palafoll, Núria Martínez-Gil, Mar Costa-Roger, Maria Teresa Villarreal-Molina, Esther Lieberman Hernandez, Rami Abou Jamra, Felix Gattermann, Margarete Koch-Hogrebe, Dagmar Wieczorek, Paul A. Trainor, Alexander R. Moise, Andrew O.M. Wilkie, Maureen A. Kane
Published 2025-01-01Get full text
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