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

by D. Hettiarachchi, V. H. W. Dissanayake
Published 2020-01-01

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

by D. Hettiarachchi, V. H. W. Dissanayake
Published 2019-11-01

A Concise Review of Ketogenic Dietary Interventions in the Management of Rare Diseases

by D. Hettiarachchi, K. Lakmal, V. H. W. Dissanayake
Published 2021-01-01

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

by D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake
Published 2020-08-01

Susceptible and Prognostic Genetic Factors Associated with Diabetic Peripheral Neuropathy: A Comprehensive Literature Review

by L. B. L. Prabodha, N. D. Sirisena, V. H. W. Dissanayake
Published 2018-01-01

Phenotypic and Cytogenetic Characterization of Mesenchymal Stromal Cells in De Novo Myelodysplastic Syndromes

by A. J. I. S. Rathnayake, H. W. W. Goonasekera, V. H. W. Dissanayake
Published 2016-01-01

Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes

by D. Hettiarachchi, B. A. P. S. Pathirana, P. J. Kumarasiri, V. H. W. Dissanayake
Published 2019-01-01

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

by D. Hettiaracchchi, N. Neththikumara, B. A. P. S. Pathirana, A. Padeniya, V. H. W. Dissanayake
Published 2018-01-01

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

by R. Mishra, C. S. Paththinige, N. D. Sirisena, S. Nanayakkara, U. G. I. U. Kariyawasam, V. H. W. Dissanayake
Published 2018-01-01

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

by D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake
Published 2020-01-01

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

by C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, L. P. C. Saman Kumara, V. H. W. Dissanayake
Published 2016-01-01

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...

by C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, P. Kruszka, M. Muenke, V. H. W. Dissanayake
Published 2018-05-01

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

by C. S. Paththinige, J. R. D. K. Rajapakse, G. R. Constantine, K. P. Sem, R. R. Singaraja, R. W. Jayasekara, V. H. W. Dissanayake
Published 2018-05-01

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

by Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V. H. W. Dissanayake
Published 2018-07-01