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Showing results 1 to 9 of 9

	Title	Author(s)	Issue Date	Views
	Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location Journal:American Journal of Medical Genetics	Tan, TY Mcgillivray, G Kornman, L Fink, AM SupertiFurga, A Bonafé, L Francis, DI Savarirayan, R	2005	66
	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	68
	Molecular and mutation analysis of hereditary multiple exostoses Proceeding/Conference:British Cancer Research Meeting	Hui, WS Cheah, KSE Huang, J Cheung, KMC Yang, L Luo, ZJ Savarirayan, R Chan, D	2002	129
	Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia Journal:American Journal of Human Genetics	CamposXavier, AB Martinet, D Bateman, J Belluoccio, D Rowley, L Tan, TY Baxová, A Gustavson, KH Borochowitz, ZU Innes, AM Unger, S Beckmann, JS Mittaz, L Ballhausen, D SupertiFurga, A Savarirayan, R Bonafé, L	2009	70
	Novel quantitative trait loci for central corneal thickness identiWed by candidate gene analysis of osteogenesis imperfecta genes Journal:Human Genetics	Dimasi, DP Chen, JY Hewitt, AW Klebe, S Richard, D Stirling, J Thompson, E Forbes, R Tan, TY Savarirayan, R Mackey, DA Healey, PR Mitchell, P Burdon, KP Craig, JE	2010	56
	A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome Journal:American Journal of Medical Genetics	Tan, TY Bankier, A Slater, HR Northrop, EL Zacharin, M Savarirayan, R	2005	65
	A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus? Journal:Clinical Dysmorphology	Tan, TY Whitelaw, C Savarirayan, R	2007	50
	Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome Journal:Journal of Medical Genetics	Tan, TY Aftimos, S Worgan, L Susman, R Wilson, M Ghedia, S Kirk, EP Love, D Ronan, A Darmanian, A Slavotinek, A Hogue, J Moeschler, JB Ozmore, J Widmer, R Savarirayan, R Peters, G	2009	83
	Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review Journal:American Journal of Medical Genetics, Part A	Tan, TY Jameson, JL Campbell, PE Ekert, PG Zacharin, M Savarirayan, R	2006	60

Showing results 1 to 9 of 9