ORA - Oxford University Research Archive

1 - 8 of 8

1

Journal article

A common mtDNA variant may be a susceptibility factor in 3 multifactorial diseases.

Poulton, J, Macaulay, V, Livesey, K, et al.
2001-10-05

2

Journal article

Pilot study of early diagnosis of hereditary haemochromatosis through systematic case finding in primary care.

Emery, J, Rose, P, Harcourt, J, et al.
2002-01-01

3

Journal article

A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.

Roetto, A, Merryweather-Clarke, AT, Daraio, F, et al.
2002-07-05

4

Journal article

A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.

Roetto, A, Merryweather-Clarke, AT, Daraio, F, et al.
2002-07-15

5

Conference

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.
2007-09-05

6

Conference

Evidence for haploinsufficiency as the mechanism of action of MyBP-C mutations that cause HCM

Carballo, S, Copeland, O, Jacques, A, et al.
2008-04-05

7

Conference

Direct evidence in man for haploinsufficiency as the mechanism of action of myosin-binding protein C mutations that cause hypertrophic cardiomyopathy

Carballo, S, Copeland, O, Livesey, K, et al.
2008-07-05

8

Journal article

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

Marston, S, Copeland, O, Jacques, A, et al.
2009-07-05

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