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Jeske, Y. W. A., McGown, I. N., Harris, M., Bowling, F. G., Choong, C. S. Y., Cowley, D. M. and Cotterill, A. M. (2009) 21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 22 2: 127-141. 43   5 Cited 4 times in Scopus4
Cowley D.M., Bowling F.G., McGiil J.J., Van Dongen J. and Morris D. (1998) Adult-onset arginase deficiency. Journal of Inherited Metabolic Disease, 21 6: 677-678. doi:10.1023/A:1005492819527 22   9 Cited 10 times in Scopus10 0
Hourigan, K. J. and Bowling, F. G. (2001) Alcoholic liver disease: A clinical series in an Australian private practice. Journal of Gastroenterology And Hepatology, 16 10: 1138-1143. doi:10.1046/j.1440-1746.2001.02603.x 780   6 Cited 11 times in Scopus11 0
Munce, T., Heussler, H. S. and Bowling, F. G. (2010) Analysis of N- and O-linked protein glycosylation in children with Prader-Willi syndrome. Journal of Intellectual Disability Research, 54 10: 929-937. doi:10.1111/j.1365-2788.2010.01323.x 67   1 Cited 1 times in Scopus1 0
Dean, Angela J., Bor, William, Adam, Kareen, Bowling, Francis G. and Bellgrove, Mark A. (2014) A randomized, controlled, crossover trial of fish oil treatment for impulsive aggression in children and adolescents with disruptive behavior disorders. Journal of Child and Adolescent Psychopharmacology, 24 3: 140-148. doi:10.1089/cap.2013.0093 57   0 Cited 0 times in Scopus0 1
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. In: Hormone Research. , , (163-163). . 6   0
Greer, R. M., Rogers, M. A., Bowling, F. G., Buntain, H. M., Harris, M., Leong, G. M. and Cotterill, A. M. (2007) Australian children and adolescents with type 1 diabetes have low vitamin D levels. MJA, 187 1: 59-60. 133   34 Cited 41 times in Scopus41
Bowling, F., Hurrion, E., Bryan, J. H., Oats, J. and McGill, J. (1999) Carbohydrate - deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation. European Journal of Paediatrics, 158 10: 794-795. doi:10.1007/s004310051207 41   1 Cited 1 times in Scopus1 0
Allen, RM, Bowling, FG and Oats, JJN (2004) Determining the fetal scalp lactate level that indicates the need for intervention in labour. Australian & New Zealand Journal of Obstetrics & Gynaecology, 44 6: 549-552. doi:10.1111/j.1479-828X.2004.00306.x 217   7 Cited 11 times in Scopus11 0
Cooper, C. D., Gole, G., Hall, J. E., Colville, D. J., Carden, S. M. and Bowling, F. (1999) Evaluating photoscreeners II: MTI and fortune videorefractor. Australian & New Zealand Journal of Ophthalmology, 27 (Dec) 6: 387-398. 42   7
Greer, R, Shepherd, R, Cleghorn, G, Bowling, FG and Holt, T (1991) Evaluation of Growth and Changes in Body-Composition Following Neonatal Diagnosis of Cystic-Fibrosis. Journal of Pediatric Gastroenterology and Nutrition, 13 1: 52-58. doi:10.1097/00005176-199107000-00010 26   26 0
Wilcken, Bridget, Haas, Marion, Joy, Pamela, Wiley, Veronica, Bowling, Francis, Carpenter, Kevin, Christodoulou, John, Cowley, David, Ellaway, Carolyn, Fletcher, Janice, Kirk, Edwin P., Lewis, Barry, McGill, Jim, Peters, Heidi, Pitt, James, Ranieri, Enzo, Yaplito-Lee, Joy and Boneh, Avihu (2009) Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years. Pediatrics, 124 2: E241-E248. doi:10.1542/peds.2008-0586 130   46 Cited 60 times in Scopus60 0
Schlebusch, S., Price, G. R., Hinds, S., Nourse, C., Schooneveldt, J. M., Tilse, M. H., Liley, H. G., Wallis, T., Bowling, F., Venter, D. and Nimmo, G. R. (2010) First outbreak of PVL-positive nonmultiresistant MRSA in a neonatal ICU in Australia: Comparison of MALDI-TOF and SNP-plus-binary gene typing. European Journal of Clinical Microbiology and Infectious Diseases, 29 10: 1311-1314. doi:10.1007/s10096-010-0995-y 96   11 Cited 10 times in Scopus10 0
Greer, Ristan M., Shah, Janaki, Jeske, Jeske, Yvette W., Brown, David, Walker, Rosslyn M., Cowley, David, Bowling, Francis G., Liaskou, Daphne, Harris, Mark, Thomsett, Michael J., Choong, Catherine, Bell, John R., Jack, Michelle M. and Cotterill, Andrew M. (2007) Genotype-Phenotype associations in patients with severe hyperinsulinism of infancy. Pediatric and Developmental Pathology, 10 1: 25-34. doi:10.2350/06-04-0083.1 139   7 Cited 10 times in Scopus10 0
Zamzami, M., Catley, L., Marinaki, A., Bowling, F. and Duley, J. (2010). INCIDENCE OF INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE (ITPA) DEFICIENCY IN PATIENTS WITH HAEMATOLOGICAL MALIGNANCIES. In: Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Istanbul, Turkey, (S182-S182). 31 August– 3 September 2010. 43   0
Zamzami, Mazin A., Duley, John A., Price, Gareth R., Venter, Deon J., Yarham, John W., Taylor, Robert W., Cately, Laurence P., Florin, Timothy H. J., Marinaki, Anthony M. and Bowling, Francis (2013) Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects. Journal of Hematology and Oncology, 6 . doi:10.1186/1756-8722-6-24 61 1 4 Cited 4 times in Scopus4 0
Zamzami, Mazin A., Price, Gareth R., Taylor, Robert W., Blakely, Emma L., Oancea, Iulia, Bowling, Francis and Duley, John A. (2011) Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0. BMC Research Notes, 4 426.1-426.8. doi:10.1186/1756-0500-4-426 95   Cited 2 times in Scopus2 0
Shield, G. J., Stillman, J., Jeske, Y., Bowling, F., Cowley, D. M., Thomsett, M., Choong, C. and Cotterill, A. M. (1999). Islet auto-antibody status at diagnosis in children with insulin dependent diabetes relates to glycaemic control at 12 months. In: Abstracts of the Australasian Paediatric Endocrine Group Annual Scientific Meeting 1999. Australasian Paediatric Endocrine Group Annual Scientific Meeting 1999, Hyatt Coolum, Maroochydore, Qld., (a29-a29). 8 - 10 October, 1999. 41  
Bowling, F., Rodwell, R., McGill, J. and Cowley, D. M. (1999). Leucocytosis, a misleading sign in metabolic acidosis. In: 23rd Annual Scientific Meeting of the Human Genetics Society of Australasia & 13th Annual Scientific Meeting of Australasian Society for Inborn Errors of Metabolism. Genetics in the New Millennium, EventSite, Aust. Technology Park, Sydney, (). 30 Aug - 2 Sept, 1999. 42  
Bowling, Francis, McGowin, Ivan, McGill, James, Cowley, David and Tuchman, Mendel (1999) Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency. American Journal of Medical Genetics. Part A, 85 5: 452-454. doi:10.1002/(SICI)1096-8628(19990827)85:5<452::AID-AJMG4>3.0.CO;2-4 71   8 Cited 10 times in Scopus10 0
Munce, Teresa, Simpson, Robert and Bowling, Francis (2008) Molecular characterization of Prader-Willi syndrome by real-time PCR. Genetic Testing, 12 2: 319-324. doi:10.1089/gte.2007.0105 28   3 Cited 3 times in Scopus3 0
Wilcken, B., Haas, M., Joy, P., Wiley, V. C., Bowling, F., Carpenter, K. H., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J. M., Kirk, E. P., Lewis, B., McGill, J., Peters, H., Pitt, J., Ranieri, E., Yaplito-Lee, J. and Boneh, A. (2009). Newborn Screening by Tandem Mass Spectrometry: a Cohort Study Comparing Outcome in Screened and Clinically Diagnosed Patients At Six Years of Age. In: Molecular Genetics and Metabolism. 11th International Conference of Inborn Errors of Metabolism, San Diego Ca, (3-3). Aug 29-Sep 02, 2009. 15   0
Bowling, Francis G., Heussler, Helen S., McWhinney, Avis and Dawson, Paul A. (2013) Plasma and urinary sulfate determination in a cohort with autism. Biochemical Genetics, 51 1-2: 147-153. doi:10.1007/s10528-012-9550-0 37   1 Cited 4 times in Scopus4 3
Bowling, F. G., Heussler, H., Dawson, P., VanDongen, J. and Markovich, D. (2008). Renal NaS1 sulfate transporter defect in autistic patients. In: Journal of Inherited Metabolic Disease. unknown, unknown, (74-74). unknown. 50   0
Kumar, Gaurav, Mattke, Adrian C., Bowling, Frank, McWhinney, Avis, Alphonso, Nelson and Karl, Tom R. (2014) Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. World Journal for Pediatric and Congenital Heart Surgery, 5 1: 118-120. doi:10.1177/2150135113501900 14   Cited 0 times in Scopus0 0
Coman, David J., Sinclair, K. G., Burke, C. J., Appleton, D. B., Pelekanos, J. T., ONeil, C. M., Wallace, G. B., Bowling, F. G., Wang, D., De Vivo, D. C. and McGill, J. J. (2006) Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome. Journal of Paediatrics and Child Health, 42 5: 263-267. doi:10.1111/j.1440-1754.2006.00852.x 171   15 Cited 17 times in Scopus17 0
Choong, C., Fuller, P. J., Chu, S., Jeske, Y., Bowling, F. G., Brown, R. P. B., Borzi, P., Balazs, N. D., Suppiah, R., Cotterill, A. M., Payton, D., Robertson, D.M. and Burger, H. G. (2002) Sertoli-Leydig Cell Tumor of the Ovary, a Rare Cause of Precocious Puberty in a 12-Month-Old Infant. Journal of Clinical Endocrinology & Metabolism, 87 1: 49-56. doi:10.1210/jc.87.1.49 85   12 Cited 21 times in Scopus21 0
Jones, K., Bowling, F., Mottram, B., van Dongen, J., Burke, J., Cotterill, A. M. and Cowley, D. M. (1999). Sinistrin clearance using a cobas fara. In: 37th Annual Scientific Conference Australian Association of Clinical Biochemists. 37th ASC Australian Association of Clinical Biochemists, Melbourne, Australia, (97-97). 5 - 9 October, 1999. 40  
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 105   8 Cited 13 times in Scopus13 0
Contreras, M., Sacks, D.A., Bowling, F. G., Cowley, D. M., Liley, H., McIntyre, H. D., Tudehope, D. I. and HAPO Study Cooperative Research Group (2002) The hyperglycemia and adverse pregnancy outcome (HAPO) study. International Journal of Gynecology and Obstetrics, 78 1: 69-77. 967   103
Chitturi, Sridhar, Harris, Mark, Thomsett, Michael J., Bowling, Francis, McGown, Ivan, Cowley, David, Leong, Gary M., Batch, Jennifer and Cotterill, Andrew M. (2008) Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. Clinical Endocrinology, 69 6: 926-930. doi:10.1111/j.1365-2265.2008.03303.x 78   5 Cited 7 times in Scopus7 3
Bowling, F. G., Broe, D., Chan, F. and Cowley, D. M. (2000). Variable results in amniotic fluid billrubin analysis using different methods. In: Proceedings of the Perinatal Society of Australia & New Zealand 4th Annual Congress, in conjunction with the Australian Neonatal Nurses Association 7th Annual Conference. The Perinatal Society of Australia & New Zealand 4th Annual Congress, in conjunction with the Australian Neonatal Nurses Association 7th Annual Conference, Brisbane, Australia, (247-247). 12-15 March, 2000. 46