Browsing Conference Papers by Author "Ranaweera, D.M."

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Molecular diagnosis of Velocardiofacial Syndrome in a cohort of Sri Lankan patients

Thevarajan, I.; Ranaweera, D.M.; de Silva, D.; Prabodha, L.B.L.; Gunasekera, R.; Dias, D.K.; Nanayakkara, B.G.; Basnayake, S.; Jayathilake, M.; Chandrasekharan, N.V. (Sri Lanka Medical Association, 2014)

INTRODUCTION AND OBJECTIVES: Velocardiofacial Syndrome (VCFS) is caused by a 3 Mb deletion encompassing around 40 genes on chromosome 22qll.2. It is characterised by variable features including congenital malformations of ...
Molecular diagnosis of Williams Buren syndrome in a cohort of Sri Lankan patients

Ranaweera, D.M.; de Silva, D.; Samarasinghe, D.; Perera, S.; Rajapaksha, N.; Chandrasekharan, N.V. (Sri Lanka Medical Association, 2012)

INTRODUCTION: Williams Bueren Syndrome (WBS) is a common genetic cause of congenital heart defects associated with developmental delay, hypercalcaemia and characteristic facial dysmorphism. It is caused by a 1.5 to 1.8 Mb ...

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