Browsing Conference Papers by Author "Samarasinghe, D."

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Molecular diagnosis of velo-cardio-facial syndrome among sri lankan patients with congenital cardiac defects

Tevarajan, I.; Ranaweera, D. M.; Perera, S.; Samarasinghe, D.; Morawakkorala, R.; Silva, R. L.; de Silva, D.; Chandrasekharan, N.V. (Sri Lanka College of Paediatricians, 2015)

Velo cardio facial Syndrome (VCFS) is caused by a 3 Mb deletion of chromosome 22qll.2. Its multiple clinical features include orofacial clefting, congenital cardiac defects (especially conotruncal),developmental ...
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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