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2007 Journal Article Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?Coman, David J., White, Susan M. and Amor, David J. (2007). Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?. American Journal of Medical Genetics, Part A, 143 (18), 2085-2088. doi: 10.1002/ajmg.a.31894 |
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2007 Journal Article A novel splice site mutation in EYA4 causes DFNA10 hearing lossHildebrand, Michael S., Coman, David, Yang, Tao, Gardner, R.J. McKinlay, Rose, Elizabeth, Smith, Richard J.H., Bahlo, Melanie and Dahl, Hans-Henrik M. (2007). A novel splice site mutation in EYA4 causes DFNA10 hearing loss. American Journal of Medical Genetics, Part A, 143 (14), 1599-1604. doi: 10.1002/ajmg.a.31860 |
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2007 Journal Article Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotypeComan, D., McGill, J., MacDonald, R., Morris, D., Klingberg, S., Jaeken, J. and Appleton, D. (2007). Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype. Journal of Clinical Neuroscience, 14 (7), 668-672. doi: 10.1016/j.jocn.2006.04.008 |
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2006 Journal Article Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-oldEather, G., Coman, D., Lander, C. and McGill, J. (2006). Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old. Journal of Clinical Neuroscience, 13 (6), 702-706. doi: 10.1016/j.jocn.2005.07.014 |
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2006 Journal Article Long-term follow-up of patients with idiopathic infantile hypercalcaemiaHuang J., Coman D., McTaggart S.J. and Burke J.R. (2006). Long-term follow-up of patients with idiopathic infantile hypercalcaemia. Pediatric Nephrology, 21 (11), 1676-1680. doi: 10.1007/s00467-006-0217-0 |
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2006 Journal Article Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndromeComan, 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 |
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2006 Journal Article Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemiaComan D., Huang J., McTaggart S., Sakamoto O., Ohura T., McGill J. and Burke J. (2006). Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. Pediatric Nephrology, 21 (2), 270-273. doi: 10.1007/s00467-005-2071-x |
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2005 Journal Article Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: Two novel PMM2 mutationsComan, David, Klingberg, S., Morris, D., McGill, J. and Mercer, H. (2005). Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: Two novel PMM2 mutations. Journal of Inherited Metabolic Disease, 28 (6), 1189-1190. doi: 10.1007/s10545-005-0166-y |
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2005 Journal Article Severe hypernatraemic dehydration in a breast-fed neonateComan, David and Mercer, Hilary (2005). Severe hypernatraemic dehydration in a breast-fed neonate. Journal of Paediatrics and Child Health, 41 (8), 458-459. doi: 10.1111/j.1440-1754.2005.00670.x |
