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Showing results 1 to 7 of 7

	Title	Author(s)	Issue Date	Views
	Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice Journal:Journal of Medical Genetics	Bruno, DL Ganesamoorthy, D Schoumans, J Bankier, A Coman, D Delatycki, M Gardner, RJM Hunter, M James, PA Kannu, P Mcgillivray, G Pachter, N Peters, H Rieubland, C Savarirayan, R Scheffer, IE Sheffield, L Tan, T White, SM Yeung, A Bowman, Z Ngo, C Choy, KW Cacheux, V Wong, L Amor, DJ Slater, HR	2009	58
	Developmental perspectives on copy number abnormalities of the 22q11.2 region Journal:Clinical Genetics	Tan, TY Gordon, CT Amor, DJ Farlie, PG	2010	58
	Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Journal:American Journal of Human Genetics	Bennett, JT Tan, TY Alcantara, D Tetrault, M Timms, AE Jensen, D Collins, S Nowaczyk, MJM Lindhurst, MJ Christensen, KM Braddock, SR Brandling-Bennett, H Hennekam, RCM Chung, BHY Lehman, A Su, J Ng, SY Amor, DJ Majewski, J Biesecker, LG Boycott, KM Dobyns, WB O'Driscoll, M Moog, U McDonell, LM	2016	60
	Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: A novel syndrome Journal:American Journal of Medical Genetics, Part A	Tan, TY Amor, DJ	2007	55
	Phenotypic variability of distal 22q11.2 copy number abnormalities Journal:American Journal of Medical Genetics, Part A	Tan, TY Collins, A James, PA Mcgillivray, G Stark, Z Gordon, CT Leventer, RJ Pope, K Forbes, R Crolla, JA Ganesamoorthy, D Burgess, T Bruno, DL Slater, HR Farlie, PG Amor, DJ	2011	73
	Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, Australia Journal:Cleft Palate-Craniofacial Journal	Tan, TY Amor, DJ Riley, M Halliday, J Kilpatrick, N Simms, K White, SM	2009	82
	Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: A critical review of the evidence and suggested guidelines for local practice Journal:Journal of Paediatrics and Child Health	Tan, TY Amor, DJ	2006	55

Showing results 1 to 7 of 7