Search Results - V. H. W. Dissanayake

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

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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

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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

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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

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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

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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

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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

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