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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. 41   5 Cited 4 times in Scopus4
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 777   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 66   0 Cited 0 times in Scopus0 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. 130   32 Cited 39 times in Scopus39
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 38   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 211   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. 41   6
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 128   45 Cited 58 times in Scopus58 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 94   9 Cited 9 times in Scopus9 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:10.2350/06-04-0083.1 134   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. 41   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 59 1 2 Cited 3 times in Scopus3 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 86   Cited 2 times in Scopus2 0
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. 41  
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 70   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 27   3 Cited 3 times in Scopus3 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 33   1 Cited 3 times in Scopus3 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. 51   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 169   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 80   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 98   7 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. 957   101
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. 44