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Scientific Reports|February 22, 2022
Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteriaTala Andoni, Jennifer Wiggins, Rachel Robinson, et al.Journal of Medical Genetics|November 2, 2010
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherogramsIan M Carr, Nick Camm, Graham R Taylor, et al.The Journal of Molecular Diagnostics : JMD|September 5, 2017
Characterization and Genomic Localization of a SMAD4 Processed PseudogeneChristopher M Watson, Nick Camm, Laura A Crinnion, et al.Molecular Diagnosis & Therapy|October 8, 2017
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence ReadsChristopher M Watson, Nick Camm, Laura A Crinnion, et al.Future Healthcare Journal|June 19, 2020
Innovative recruitment and clinical orientation programme to manage NHS junior doctor shortfall: A district hospital experienceSyed Rehan Quadery, Hamid Roodbari, Pradeep Pardeshi, et al.Human Mutation|December 6, 2013
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interfaceChristopher M Watson, Laura A Crinnion, Joanne E Morgan, et al.Plos One|August 19, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencingChristopher M Watson, Mohammed El-Asrag, David A Parry, et al.Oral Diseases|August 11, 2018
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndromeLaura L E Whitehouse, Claire E L Smith, James A Poulter, et al.Journal of the National Cancer Institute|March 2, 2006
PMS2 mutations in childhood cancerMichel De Vos, Bruce E Hayward, Ruth Charlton, et al.Steroids|May 17, 2011
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patientsAngel O K Chan, W M But, K L Ng, et al.Pageof 2