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Research | 25 June 2014 | Open
An exome sequencing strategy to diagnose lethal autosomal recessive disorders
- sian.ellard@nhs.net
- Sian Ellard
- , Emma Kivuva
- , Peter Turnpenny
- , Karen Stals
- , Matthew Johnson
- , Weijia Xie
- , Richard Caswell
- & Hana Lango Allen
European Journal of Human Genetics 23 , 401–404

Rights & permissionsfor article An exome sequencing strategy to diagnose lethal autosomal recessive disorders . Opens in a new window.
Research | 12 August 2015 | Open
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
- sian.ellard@nhs.net
European Journal of Human Genetics 23 , 1744–1748

Rights & permissionsfor article Biallelic <i>RFX6</i> mutations can cause childhood as well as neonatal onset diabetes mellitus . Opens in a new window.
Reviews | 14 September 2010
Focal congenital hyperinsulinism in a patient with septo-optic dysplasia
- Sian Ellard, BSc, PhD, FRCPath,...
- Raja Padidela
- , Ritika R. Kapoor
- , Yuva Moyo
- , Clare Gilbert
- , Sarah E. Flanagan
- , Sian Ellard
- & Khalid Hussain
Nature Reviews Endocrinology 6 , 646–650

Rights & permissionsfor article Focal congenital hyperinsulinism in a patient with septo-optic dysplasia . Opens in a new window.
Reviews | 26 February 2008
Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
- Sian Ellard is Professor of Human Molecular...
Nature Clinical Practice Endocrinology & Metabolism 4 , 200–213

Rights & permissionsfor article Clinical implications of a molecular genetic classification of monogenic β-cell diabetes . Opens in a new window.
Reviews | 23 December 2014
HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum
- Professor Sian Ellard graduated from the University of...
Nature Reviews Nephrology 11 , 102–112

Rights & permissionsfor article HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum . Opens in a new window.

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