Dineshani Hettiarachchi (D Hettiaracchchi, D Hettiarachchi, Dineshani Hettiaracchchi)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 13

Top Venues

Case reports in genetics

BMC research notes

BMC medical genetics

BMC medical genomics

University of Colombo Faculty of Medicine

University of Colombo Faculty of Medicine (MSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Colombo Faculty of Medicine Sep 07 2016

Sri Lanka

Lecturer :: Anatomy

Education History

University of Colombo Faculty of Medicine Aug 01 2013 - Aug 01 2015

Sri Lanka

MSC :: Human Genetics Unit

Publications

Dineshani Hettiarachchi, S M V Subasinghe, G G Anandagoda, Hetalkumar Panchal, Poh-San Lai, Vajira H W Dissanayake
Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys. BMC medical genomics 15 (1) (2022)
Dineshani Hettiarachchi, K Lakmal, Vajira H W Dissanayake
A Concise Review of Ketogenic Dietary Interventions in the Management of Rare Diseases. Journal of nutrition and metabolism 2021 (2021)
Kasun Lakmal, Oshan Basnayake, Dineshani Hettiarachchi
Systematic review on the rational use of amniotic membrane allografts in diabetic foot ulcer treatment. BMC surgery 21 (1) (2021)
Dineshani Hettiarachchi, N F Neththikumara, B A P S Pathirana, V H W Dissanayake
Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome. Journal of autism and developmental disorders 50 (1) (2020)
Dineshani Hettiarachchi, Nafeesa Noordeen, Chanpika Gamakaranage, E A Rumesh Buddhika D Somarathne, Saroj Jayasinghe
Ethical Responses to the COVID-19 Pandemic-Lessons from Sri Lanka. Asian bioethics review (2020)
Dineshani Hettiarachchi, Hetalkumar Panchal, B A P S Pathirana, P D Rathnayaka, A Padeniya, Poh-San Lai, Vajira H W Dissanayake
Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia. Case reports in genetics 2020 (2020)
Dineshani Hettiarachchi, V H W Dissanayake
Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD). BMC research notes 13 (1) (2020)
Dineshani Hettiarachchi, Hetalkumar Panchal, Poh-San Lai, V H W Dissanayake
Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report. BMC medical genetics 21 (1) (2020)
Dineshani Hettiarachchi, B A P S Pathirana, P J Kumarasiri, Vajira H W Dissanayake
Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. Case reports in genetics 2019 (2019)
Dineshani Hettiarachchi, V H W Dissanayake
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD). BMC research notes 12 (1) (2019)
Dineshani Hettiarachchi, Carine Bonnard, S M A Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V H W Dissanayake
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. BMC medical genetics 19 (1) (2018)
Dineshani Hettiarachchi, N Neththikumara, B A P S Pathirana, A Padeniya, Vajira H W Dissanayake
A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter. Case reports in pediatrics 2018 (2018)
Dineshani Hettiarachchi, Nilaksha Nethikumara, Bamunu Arachchi Pathiranage Sajeewani Pathirana, Kalum Weththasigha, Weerabaddana Dilshani Niluka Dissanayake, Vajira H W Dissanayake
A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B). Clinical case reports 6 (6) (2018)

Dineshani Hettiarachchi.css-eqlu8i{font-size:small;padding-left:4px;} (D Hettiaracchchi, D Hettiarachchi, Dineshani Hettiaracchchi)

Publication Activity (10 Years)

Top Topics

Top Venues

Dineshani Hettiarachchi (D Hettiaracchchi, D Hettiarachchi, Dineshani Hettiaracchchi)