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Gene|November 6, 2018
Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?Schaida Schirwani, Vivienne McConnell, Josh Willoughby, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patientJosh Willoughby, Celia Duff-Farrier, Archana Desurkar, et al.American Journal of Medical Genetics. Part A|December 18, 2018
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variantThabo Michael Yates, Oon-Hui Ng, Amaka C Offiah, et al.American Journal of Medical Genetics. Part A|September 26, 2017
De novo mutations in HNRNPU result in a neurodevelopmental syndromeT Michael Yates, Pradeep C Vasudevan, Kate E Chandler, et al.Clinical Genetics|January 23, 2019
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotypeJessica A Radley, Rory B G O'Sullivan, Sarah E Turton, et al.British Journal of Haematology|June 11, 2021
Assessment of droplet digital polymerase chain reaction for measuring BCR-ABL1 in chronic myeloid leukaemia in an international interlaboratory studyStuart Scott, Ashley Cartwright, Sebastian Francis, et al.Pageof 1