Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature

por Mishra, R., Paththinige, C. S., Sirisena, N. D., Nanayakkara, S., Kariyawasam, U. G. I. U., Dissanayake, V. H. W.
Publicado 2018

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

por Paththinige, C. S., Sirisena, N. D., Kariyawasam, U. G. I. U., Saman Kumara, L. P. C., Dissanayake, V. H. W.
Publicado 2016

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature...

por Paththinige, C. S., Sirisena, N. D., Kariyawasam, U. G. I. U., Ediriweera, R. C., Kruszka, P., Muenke, M., Dissanayake, V. H. W.
Publicado 2018

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

por Paththinige, C. S., Rajapakse, J. R. D. K., Constantine, G. R., Sem, K. P., Singaraja, R. R., Jayasekara, R. W., Dissanayake, V. H. W.
Publicado 2018

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

por Sirisena, Nirmala Dushyanthi, Samaranayake, U. M. Jayami Eshana, Neto, Osorio Lopes Abath, Foley, A. Reghan, Pathirana, B. A. P. Sajeewani, Neththikumara, Nilaksha, Paththinige, C. Sampath, Rathnayake, Pyara, Donkervoort, Sandra, Bönnemann, Carsten G., Dissanayake, Vajira H. W.
Publicado 2021