Bowling F - Search Results

1

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, Christodoulou J, Cowley D, Ellaway C, Fletcher J, Kirk EP, Lewis B, McGill J, Peters H, Pitt J, Ranieri E, Yaplito-Lee J, Boneh A. Wilcken B, et al. Among authors: bowling f. Pediatrics. 2009 Aug;124(2):e241-8. doi: 10.1542/peds.2008-0586. Epub 2009 Jul 20. Pediatrics. 2009. PMID: 19620191

2

Adult-onset arginase deficiency.

Cowley DM, Bowling FG, McGill JJ, van Dongen J, Morris D. Cowley DM, et al. Among authors: bowling fg. J Inherit Metab Dis. 1998 Aug;21(6):677-8. doi: 10.1023/a:1005492819527. J Inherit Metab Dis. 1998. PMID: 9762606 No abstract available.

3

Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.

Bowling F, McGown I, McGill J, Cowley D, Tuchman M. Bowling F, et al. Am J Med Genet. 1999 Aug 27;85(5):452-4. doi: 10.1002/(sici)1096-8628(19990827)85:5<452::aid-ajmg4>3.0.co;2-4. Am J Med Genet. 1999. PMID: 10405441

4

Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation.

Bowling FG, Hurrion E, Bryan J, Oats J, McGill JJ. Bowling FG, et al. Eur J Pediatr. 1999 Oct;158(10):794-5. doi: 10.1007/s004310051207. Eur J Pediatr. 1999. PMID: 10486078

5

Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome.

Coman DJ, Sinclair KG, Burke CJ, Appleton DB, Pelekanos JT, O'Neil CM, Wallace GB, Bowling FG, Wang D, De Vivo DC, McGill JJ. Coman DJ, et al. Among authors: bowling fg. J Paediatr Child Health. 2006 May;42(5):263-7. doi: 10.1111/j.1440-1754.2006.00852.x. J Paediatr Child Health. 2006. PMID: 16712556

6

Genetic screening of newborn in Australia. Results for 1981.

Pitt D, Connelly J, Francis I, Wilcken B, Brown DA, Robertson E, Hill G, Masters P, Raby J, McFarlane J, Bowling F, Hancock J. Pitt D, et al. Among authors: bowling f. Med J Aust. 1983 Apr 2;1(7):333-5. doi: 10.5694/j.1326-5377.1983.tb136112.x. Med J Aust. 1983. PMID: 6835136

7

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

Huynh T, Greer RM, Nyunt O, Bowling F, Cowley D, Leong GM, Cotterill AM, Harris M. Huynh T, et al. Among authors: bowling f. Pediatr Diabetes. 2009 Feb;10(1):38-43. doi: 10.1111/j.1399-5448.2008.00439.x. Epub 2008 Aug 27. Pediatr Diabetes. 2009. PMID: 18761649

8

Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus.

Chitturi S, Harris M, Thomsett MJ, Bowling F, McGown I, Cowley D, Leong GM, Batch J, Cotterill AM. Chitturi S, et al. Among authors: bowling f. Clin Endocrinol (Oxf). 2008 Dec;69(6):926-30. doi: 10.1111/j.1365-2265.2008.03303.x. Epub 2008 May 20. Clin Endocrinol (Oxf). 2008. PMID: 18494865

9

Screening for cystic fibrosis: use of delta F508 mutation.

Bowling FG, McGill JJ, Shepherd RW, Danks DM. Bowling FG, et al. Lancet. 1990 Apr 14;335(8694):925-6. doi: 10.1016/0140-6736(90)90534-c. Lancet. 1990. PMID: 1970022 No abstract available.

10

Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.

Greer RM, Shah J, Jeske YW, Brown D, Walker RM, Cowley D, Bowling FG, Liaskou D, Harris M, Thomsett MJ, Choong C, Bell JR, Jack MM, Cotterill AM. Greer RM, et al. Pediatr Dev Pathol. 2007 Jan-Feb;10(1):25-34. doi: 10.2350/06-04-0083.1. Pediatr Dev Pathol. 2007. PMID: 17378627

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