Search filters

List of works by Paul Brennan

'Over-the-counter' genetic testing: what does it really mean for primary care?

scientific article

A multicentre study of patients with Timothy syndrome.

scientific article published on 24 March 2017

A novel link between keratoderma and cardiomyopathy: contiguous gene deletion involving the desmoglein gene cluster

scientific article published on 13 April 2017

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

scientific article

Breast cancer risk in MEN1 - a cancer genetics perspective

scientific article

Collecting genetic information in primary care: evaluating a new family history tool

scientific article published on 29 July 2005

Diagnosing Fabry disease--delays and difficulties within discordant siblings.

scientific article published in February 2013

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

article

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Inherited skin tumour syndromes

scientific article published in December 2017

Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1

scientific article published on 21 June 2013

Parapelvic cysts leading to a diagnosis of Fabry disease

scientific article published on 01 November 2008

Revised diagnostic criteria for Marfan syndrome ⬇️

scientific article published on 01 September 2011

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

scientific article

The Teesside cancer family history service: change management and innovation at cancer network level

scientific article published on 17 May 2007

Paulina is supported by:

About Paulina

Help