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List of works by Dineshani Hettiarachchi

A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter.

scientific article published on 5 July 2018

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B).

scientific article

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

scientific article published on 24 July 2018

Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

scientific article published on 22 January 2020

Ethical Responses to the COVID-19 Pandemic-Lessons from Sri Lanka

scientific article published on 03 November 2020

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

publication published on 14 April 2022

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

scientific article published on 20 August 2020

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

scientific article published on 09 December 2020

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

scientific article published on 06 November 2019

Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes

scientific article published on 06 November 2019

Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome

scientific article published on 01 January 2020

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