Showing 1 - 7 results of 7 for search 'V. H. W. Dissanayake', query time: 0.06s Refine Results
  1. 1
    Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report

    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
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  2. 2
    A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter

    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
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  3. 3
    Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys

    Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys by D. Hettiarachchi, S. M. V. Subasinghe, G. G. Anandagoda, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake

    Published 2022
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  4. 4
    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
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  5. 5
    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

    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
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  6. 6
    Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

    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
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  7. 7
    Iron overload leading to cirrhosis in a patient with hereditary spherocytosis and heterozygosity for H63D mutation in the HFE gene

    Iron overload leading to cirrhosis in a patient with hereditary spherocytosis and heterozygosity for H63D mutation in the HFE gene by M. C. P. Madurapperuma, R . B. A. T. Dulanjalie, T. M. H. M. Thennakoon, K. W. Gunawardena, W. W. L. A. Jayanaga, V. H. W. Dissanayake

    Published 2023
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