Search results - ORA - Oxford University Research Archive

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1

Conference item

Expansion of a diagnostic service for hypertrophic cardiomyopathy using next generation sequencing

Reid, S, Woodley, J, Kaur, K, et al.
2011-09-01

2

Conference item

Inherited Cardiac Conditions - current issues and future directions

Ormondroyd, L, Oates, S, Thomson, K, et al.
2009-09-01

3

Journal article

An in vivo model of reverse signalling through CD40L.

Thomson, K, Manis, J, Jones, M, et al.
1999-11-15

4

Journal article

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Kelly, M, Caleshu, C, Morales, A, et al.
2018-01-04

5

Conference item

A fast-throughput service for Familial Hypertrophic and Dilated Cardiomyopathy using High resolution melt curve analysis on the Lightscanner

Thistleton, J, Thomson, K, Wilson, M, et al.
2007-09-01

6

Conference item

Oxford Molecular Genetics Laboratory Cardiomyopathy Service

Thistleton, J, Thomson, K, Blair, E, et al.
2006-09-01

7

Journal article

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson, K, Gloyn, A, Colclough, K, et al.
2003-11-01

8

Journal article

Distinct subgroups in hypertrophic cardiomyopathy in the NHLBI HCM Registry

Neubauer, S, Kolm, P, Ho, CY, et al.
2019-11-04

9

Journal article

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Thomson, K, Ormondroyd, E, Harper, A, et al.
2018-12-11

10

Journal article

When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies

Ehsan, M, Jiang, H, Thomson, K, et al.
2017-11-08

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