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

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys

بواسطة Hettiarachchi, D, Subasinghe, SMV, Anandagoda, GG, Panchal, H, Lai, PS, Dissanayake, VHW
منشور في 2022

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.

بواسطة Hettiarachchi, D, Panchal, Hetalkumar, Pathirana, BAPS, Rathnayaka, PD, Padeniya, A, Lai, PS, Dissanayake, VHW
منشور في 2021