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2009

Journal Article

Benefit of early commencement of growth hormone therapy in children with Prader-Willi syndrome

Nyunt, O., Harris, M., Hughes, I., Huynh, T., Davies, P. S. W. and Cotterill, A. M. (2009). Benefit of early commencement of growth hormone therapy in children with Prader-Willi syndrome. Journal of Pediatric Endocrinology and Metabolism, 22 (12), 1151-1158. doi: 10.1515/JPEM.2009.22.12.1151

Benefit of early commencement of growth hormone therapy in children with Prader-Willi syndrome

2009

Journal Article

Investigating maturity onset diabetes of the young

Nyunt, Ohn, Wu, Joyce Y, McGown, Ivan N, Harris, Mark, Huynh, Tony, Leong, Gary M, Cowley, David M and Cotterill, Andrew M (2009). Investigating maturity onset diabetes of the young. Clinical Biochemist Reviews, 30 (2), 67-74.

Investigating maturity onset diabetes of the young

2009

Journal Article

The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency

Huynh, Tony, McGown, Ivan, Cowley, David, Nyunt, Ohn, Leong, Gary M., Harris, Mark and Cotterill, Andrew M. (2009). The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clinical Biochemist Reviews, 30 (2), 75-86.

The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency

2009

Conference Publication

A selective glucocorticoid receptor modulator improves muscle function in a mouse model for Duchenne muscular dystrophy

Huynh, Tony, Trebbin, Andrea, Cowley, David, Bowling, Francis, Leong, Gary M., Cotterill, Andrew M., Harris, Mark, De Bosscher, Karolien, Haegeman, Guy and Hoey, Andrew J. (2009). A selective glucocorticoid receptor modulator improves muscle function in a mouse model for Duchenne muscular dystrophy. BASEL: KARGER.

A selective glucocorticoid receptor modulator improves muscle function in a mouse model for Duchenne muscular dystrophy

2009

Journal Article

The association between ketoacidosis and 25(OH)-vitamin D-3 levels at presentation in children with type 1 diabetes mellitus

Huynh, Tony, Greer, Ristan M., Nyunt, Ohn, Bowling, Francis, Cowley, David, Leong, Gary M., Cotterill, Andrew M. and Harris, Mark (2009). The association between ketoacidosis and 25(OH)-vitamin D-3 levels at presentation in children with type 1 diabetes mellitus. Pediatric Diabetes, 10 (1), 38-43. doi: 10.1111/j.1399-5448.2008.00439.x

The association between ketoacidosis and 25(OH)-vitamin D-3 levels at presentation in children with type 1 diabetes mellitus

2009

Journal Article

A novel V185DfsX4 mutation of the AAAS gene in a 2-year-old boy with Triple A Syndrome

Cotterill, A. M., Cowley, D., Harris, M., Huynh, T., Leong, G. M., McGown, I. and Nyunt, O. (2009). A novel V185DfsX4 mutation of the AAAS gene in a 2-year-old boy with Triple A Syndrome. Clinical Pediatric Endocrinology, 18 (2), 73-75. doi: 10.1297/cpe.18.73

A novel V185DfsX4 mutation of the AAAS gene in a 2-year-old boy with Triple A Syndrome

2009

Conference Publication

Congenital adrenal hyperplasia genotyping strategy using MLPA and DNA sequencing: an Australian cohort

Huynh, Tony, McGown, Ivan, Cowley, David, Harris, Mark, Leong, Gary M. and Cotterill, Andrew M. (2009). Congenital adrenal hyperplasia genotyping strategy using MLPA and DNA sequencing: an Australian cohort. BASEL: KARGER.

Congenital adrenal hyperplasia genotyping strategy using MLPA and DNA sequencing: an Australian cohort

2008

Conference Publication

Hyperinsulinism of infancy associated with a novel paternally inherited alteration in the KCNJ11 gene

Cotterill, A. M., Cowley, D., Dahiya, R., Greer, R. M., Harris, M., Huynh, T., Leong, G., McGown, I., Nyunt, O., Venter, D. J. and Walker, R. (2008). Hyperinsulinism of infancy associated with a novel paternally inherited alteration in the KCNJ11 gene. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Canberra, ACT, Australia, 17-19 November 2008.

Hyperinsulinism of infancy associated with a novel paternally inherited alteration in the KCNJ11 gene