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Journal of Nephrology|June 5, 2024
A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failureFelicity Beal, Natalie Forrester, Elizabeth Watson, et al.British Journal of Neurosurgery|August 21, 2014
EGFR and EGFRvIII analysis in glioblastoma as therapeutic biomarkersClaire Faulkner, Abigail Palmer, Hannah Williams, et al.Journal of Veterinary Medical Education|October 8, 2025
Teaching Tip: The Role of Cognitive Task Analysis in Teaching Complex Skills Using Canine Fundoscopy as an ExampleHeidi E Banse, Renee T Carter, Jeremy S Redmond, et al.Journal of Medical Genetics|August 7, 2017
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendationsEthan S Sen, Philip Dean, Laura Yarram-Smith, et al.American Journal of Human Genetics|August 9, 2011
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth diseaseMichael N Weedon, Robert Hastings, Richard Caswell, et al.Journal of Inherited Metabolic Disease|August 13, 2014
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotypeAnn Bowron, Julie Honeychurch, Maggie Williams, et al.Clinical Journal of the American Society of Nephrology : CJASN|April 23, 2020
Response to First Course of Intensified Immunosuppression in Genetically Stratified Steroid Resistant Nephrotic SyndromeAnna E Mason, Ethan S Sen, Agnieszka Bierzynska, et al.Human Genomics|October 9, 2015
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHDMary B Mayes, Taniesha Morgan, Jincy Winston, et al.Journal of Neurology|May 28, 2017
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophySandra Moreira, Libby Wood, Debbie Smith, et al.Journal of Neurology|May 11, 2016
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registryTeresinha Evangelista, Libby Wood, Roberto Fernandez-Torron, et al.Pageof 5