Browsing publications by Dr David Bourn

Newcastle AuthorsTitleYear
Dr Lisa Turnbull
Dr David Bourn
Dr Christopher Bacon
Dr Michael Wright
Dr Mario Abinun
et al.
Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature2014
Dr Stephen Ball
Dr Martin Ward Platt
Dr David Bourn
Dr Timothy Cheetham
Utility of genetic testing in suspected familial cranial diabetes insipidus2013
Dr Lisa Turnbull
Dr David Bourn
Dr Michael Wright
Dr Christopher Bacon
Dr Mario Abinun
et al.
Granulomatous inflammation at presentation of severe T cell immunodeficiency due to RMRP mutation (cartilage-hair hypoplasis)2012
Dr Lee Borthwick
Phil Botha
Dr Malcolm Brodlie
Aaron Gardner
Dr David Bourn
et al.
Is CFTR-delF508 Really Absent from the Apical Membrane of the Airway Epithelium?2011
Dr Sanjay Gupta
Dr Timothy Cheetham
Dr David Bourn
Dr Malcolm Coulthard
Dr Stephen Ball
et al.
Thirst perception and arginine vasopressin production in a kindred with an activating mutation of the type 2 vasopressin receptor: the pathophysiology of nephrogenic syndrome of inappropriate antidiuresis2009
Dr David Bourn
Dr Lisa Turnbull
Audit of microsatellite instability testing procedures in moderate risk bowel cancer families2007
Daniel Routledge
Dr David Bourn
Dr Nicholas Bown
Mike Cole
Dr Andrew Gennery
et al.
Quantitative assessment of mixed chimerism in allogeneic stem cell transplant patients - A comparison of molecular genetic and cytogenetic approaches2007
Dr Aileen Taylor
Rose Watson
Dr David Bourn
ABCA12 is the major harlequin ichthyosis gene2006
Dr Julian Venables
Dr Lisa Turnbull
Dr David Bourn
Dr Martha Lucia Diaz Torres
Dr Michael Jackson
et al.
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene2006
Dr David Bourn
Daniel Routledge
Dr Ann Curtis
Integration of the Qiagen M48 and EZ1 DNA extraction robots into routine practice.2005
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