खोज परिणाम - V. H. W. Dissanayake

  • प्रदर्शित 1 - 7 परिणाम 7
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  1. 1
    कवर छवि

    Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report द्वारा D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake

    प्रकाशित 2020
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  2. 2
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    A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter द्वारा D. Hettiaracchchi, N. Neththikumara, B. A. P. S. Pathirana, A. Padeniya, V. H. W. Dissanayake

    प्रकाशित 2018
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  3. 3
    कवर छवि

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

    प्रकाशित 2022
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  4. 4
    कवर छवि

    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 द्वारा R. Mishra, C. S. Paththinige, N. D. Sirisena, S. Nanayakkara, U. G. I. U. Kariyawasam, V. H. W. Dissanayake

    प्रकाशित 2018
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  5. 5
    कवर छवि

    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... द्वारा C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, P. Kruszka, M. Muenke, V. H. W. Dissanayake

    प्रकाशित 2018
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  6. 6
    कवर छवि

    Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly द्वारा Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V. H. W. Dissanayake

    प्रकाशित 2018
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  7. 7
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    Iron overload leading to cirrhosis in a patient with hereditary spherocytosis and heterozygosity for H63D mutation in the HFE gene द्वारा 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

    प्रकाशित 2023
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