Publications by authors named "H Bullman"

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Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?
M White, J Conroy, H Bullman, M Lever, E Daly

Case Rep Genet· February 2013

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Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q.
A Dixit, K E Chandler, M Lever, R L Poole, H Bullman

J Clin Endocrinol Metab· January 2013

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Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.
I K Temple, V Shrubb, M Lever, H Bullman, D J G Mackay

BMJ Case Rep· July 2011

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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
Claire Louise Susan Turner, Deborah M Mackay, Jonathan L A Callaway, Louise E Docherty, Rebecca L Poole, Hilary Bullman

Eur J Hum Genet· June 2010

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Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.
Juraj Staník, Mark Lethby, Sarah E Flanagan, Daniela Gasperíková, Beata Milosovicová, Hilary Bullman

Diabetes Care· September 2008

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