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Browsing publications by Dr Simon Zwolinski

Newcastle AuthorsTitleYearFull text
Dr Sara Brown
Dr Jannath Ahmed
Dr Simon Zwolinski
Dr Paul Brennan
Dr Neil Rajan
et al.
A novel link between keratoderma and cardiomyopathy: Contiguous gene deletion involving the desmoglein gene cluster2018
Adriana Buskin
Dr Lili Zhu
Dr Valeria Chichagova
Dr David Dolan
Dr Gerrit Hilgen
et al.
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa2018
Adriana Buskin
Dr Lili Zhu
Dr Valeria Chichagova
Dr David Dolan
Dr Joseph Collin
et al.
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa2018
Dr Jannath Ahmed
Dr Simon Zwolinski
Dr Paul Brennan
Dr Neil Rajan
A novel contiguous heterozygous deletion involving the desmoglein 2 and desmocollin 2 genes is associated with arrhythmogenic right ventricular cardiomyopathy2016
Dr Brian Wilson
Dr Simon Zwolinski
Dr Laura Yates
Dr Sally Lynch
Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay2015
Dr Simon Zwolinski
Dr Michael Wright
3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?2013
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Shona Bennett
Dr Simon Zwolinski
et al.
Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization2013
Dr Brian Wilson
Dr Simon Zwolinski
Dr Miranda Splitt
A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?2012
Rachel Soemedi
Dr Ian Wilson
Dr Rebecca Darlay
Dr Ana Topf
Dr Simon Zwolinski
et al.
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease2012
Dr Brian Wilson
Dr Simon Zwolinski
Dr Michael Wright
Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome2012
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