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1.
Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy.
J Paediatr Child Health
; 58(2): 248-255, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-34397126
2.
Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases.
J Paediatr Child Health
; 57(4): 484-490, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33666293
3.
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Hum Mutat
; 39(1): 124-139, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29027299
4.
Advances in the detection and management of cystic fibrosis related diabetes.
Curr Opin Pediatr
; 27(4): 525-33, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26087430
5.
Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report.
BMC Pediatr
; 15: 200, 2015 Dec 02.
Article
in English
| MEDLINE | ID: mdl-26631065
6.
The FOXP3Δ2 isoform supports Treg cell development and protects against severe IPEX syndrome.
J Allergy Clin Immunol
; 144(1): 317-320.e8, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30904640
7.
Visual function and retinal thickness in children with type 1 diabetes mellitus.
Clin Exp Optom
; : 1-9, 2024 Jan 04.
Article
in English
| MEDLINE | ID: mdl-38175925
8.
Response to growth hormone treatment in Prader-Willi syndrome: auxological criteria versus genetic diagnosis.
J Paediatr Child Health
; 49(12): 1045-51, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-23781979
9.
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Nat Genet
; 36(3): 228-30, 2004 Mar.
Article
in English
| MEDLINE | ID: mdl-14758361
10.
A diabetes awareness campaign prevents diabetic ketoacidosis in children at their initial presentation with type 1 diabetes.
Pediatr Diabetes
; 13(8): 647-51, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-22816992
11.
Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children.
Pediatr Diabetes
; 12(3 Pt 1): 142-9, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21518407
12.
Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism.
Australas J Dermatol
; 52(2): 127-31, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21605097
13.
Cystic fibrosis-related diabetes and lung disease: an update.
Eur Respir Rev
; 30(159)2021 Mar 31.
Article
in English
| MEDLINE | ID: mdl-33597125
14.
Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism.
Horm Res Paediatr
; 93(3): 206-211, 2020.
Article
in English
| MEDLINE | ID: mdl-32580193
15.
Glucose abnormalities detected by continuous glucose monitoring are common in young children with Cystic Fibrosis.
J Cyst Fibros
; 19(5): 700-703, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32111453
16.
Peak OGTT glucose is associated with lower lung function in young children with cystic fibrosis.
J Cyst Fibros
; 19(2): 305-309, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31126898
17.
Early glucose abnormalities are associated with pulmonary inflammation in young children with cystic fibrosis.
J Cyst Fibros
; 18(6): 869-873, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31036487
18.
Autoantibodies Directed Toward a Novel IA-2 Variant Protein Enhance Prediction of Type 1 Diabetes.
Diabetes
; 68(9): 1819-1829, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31167877
19.
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome.
Wellcome Open Res
; 4: 149, 2019.
Article
in English
| MEDLINE | ID: mdl-32832699
20.
Insulin allergy desensitization with simultaneous intravenous insulin and continuous subcutaneous insulin infusion.
Pediatr Diabetes
; 9(4 Pt 2): 420-2, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18775000