Showing 1 - 3 results of 3 for search 'C. S. Paththinige', query time: 0.02s Refine Results
  1. 1
    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

    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
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  2. 2
    Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

    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
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  3. 3
    A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

    A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report by Nirmala Dushyanthi Sirisena, U. M. Jayami Eshana Samaranayake, Osorio Lopes Abath Neto, A. Reghan Foley, B. A. P. Sajeewani Pathirana, Nilaksha Neththikumara, C. Sampath Paththinige, Pyara Rathnayake, Sandra Donkervoort, Carsten G. Bönnemann, Vajira H. W. Dissanayake

    Published 2021-03-01
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