Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report

بواسطة Hettiarachchi, D., Panchal, H., Lai, P.S., Dissanayake, V.H.W.
منشور في 2021

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

بواسطة Hettiaracchchi, D, Bonnard, C, Jayawardana, S.M.A, Ng, A.Y.J, Tohari, S, Venkatesh, B, Reversade, B, Singaraja, R, Dissanayake, V.H.W
منشور في 2020

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

بواسطة Paththinige, C.S, Rajapakse, J.R.D.K, Constantine, G.R, Sem, K.P, Singaraja, R.R, Jayasekara, R.W, Dissanayake, V.H.W
منشور في 2020