Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report
Hettiarachchi, D, Panchal, Hetalkumar, Lai, P. S, Dissanayake, V. H. W
Published in BMC medical genetics (20.08.2020)
Published in BMC medical genetics (20.08.2020)
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Journal Article
A Concise Review of Ketogenic Dietary Interventions in the Management of Rare Diseases
Hettiarachchi, D., Lakmal, K., Dissanayake, V. H. W.
Published in Journal of nutrition and metabolism (15.02.2021)
Published in Journal of nutrition and metabolism (15.02.2021)
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Journal Article
Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
Hettiarachchi, D, Subasinghe, S M V, Anandagoda, G G, Panchal, Hetalkumar, Lai, P S, Dissanayake, V H W
Published in BMC medical genomics (14.04.2022)
Published in BMC medical genomics (14.04.2022)
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Journal Article
Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report
Paththinige, C S, Rajapakse, J R D K, Constantine, G R, Sem, K P, Singaraja, R R, Jayasekara, R W, Dissanayake, V H W
Published in Lipids in health and disease (02.05.2018)
Published in Lipids in health and disease (02.05.2018)
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Journal Article
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
Mishra, R, Paththinige, C S, Sirisena, N D, Nanayakkara, S, Kariyawasam, U G I U, Dissanayake, V H W
Published in BMC pediatrics (08.01.2018)
Published in BMC pediatrics (08.01.2018)
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Journal Article
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
Paththinige, C S, Sirisena, N D, Kariyawasam, U G I U, Ediriweera, R C, Kruszka, P, Muenke, M, Dissanayake, V H W
Published in BMC medical genomics (08.05.2018)
Published in BMC medical genomics (08.05.2018)
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Journal Article
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
Hettiaracchchi, Dineshani, Bonnard, Carine, Jayawardana, S M A, Ng, Alvin Yu Jin, Tohari, Sumanty, Venkatesh, Byrappa, Reversade, Bruno, Singaraja, Roshni, Dissanayake, V H W
Published in BMC medical genetics (24.07.2018)
Published in BMC medical genetics (24.07.2018)
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Journal Article
Optimizing amniotic membrane tissue banking protocols for ophthalmic use
Hettiarachchi, D., Dissanayake, V. H. W., Goonasekera, H. W. W.
Published in Cell and tissue banking (01.09.2016)
Published in Cell and tissue banking (01.09.2016)
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Journal Article
Candidate gene study of susceptibility to cutaneous leishmaniasis in Sri Lanka
Samaranayake, T.N, Fernando, S.D, Dissanayake, V.H.W
Published in Tropical medicine & international health (01.05.2010)
Published in Tropical medicine & international health (01.05.2010)
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Journal Article
Population Screening for Hemoglobinopathies
Goonasekera, H.W, Paththinige, C.S, Dissanayake, V.H.W
Published in Annual review of genomics and human genetics (31.08.2018)
Published in Annual review of genomics and human genetics (31.08.2018)
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Journal Article
The Prevalence of the Prothrombin (F2) 20210G>A Mutation in a Cohort of Sri Lankan Patients with Thromboembolic Disorders
Gunathilake, K. M. D., Sirisena, U. N. D., Nisansala, P. K. D., Goonasekera, H. W. W., Jayasekara, R. W., Dissanayake, V. H. W.
Published in Indian journal of hematology & blood transfusion (01.09.2015)
Published in Indian journal of hematology & blood transfusion (01.09.2015)
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Journal Article