Publications

Publications

 

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Recent Submissions

  • Turner syndrome in diverse populations 
    Kruszka, P.; Addissie, Y.A.; Tekendo-Ngongang, C.; Jones, K.L.; Savage, S.K.; Gupta, N.; Sirisena, N.D.; Dissanayake, V.H.W.; Paththinige, C.S.; Aravena, T.; Nampoothiri, S.; Yesodharan, D.; Girisha, K.M.; Patil, S.J.; Jamuar, S.S.; Goh, J.C.; Utari, A.; Sihombing, N.; Mishra, R.; Chitrakar, N.S.; Iriele, B.C.; Lulseged, E.; Megarbane, A.; Uwineza, A.; Oyenusi, E.E.; Olopade, O.B.; Fasanmade, O.A.; DuenasRoque, M.M.; Thong, M.K.; Tung, J.Y.L.; Mok, G.T.K.; Fleischer, N.; Rwegerera, G.M.; de Herreros, M.B.; Watts, J.; Fieggen, K.; Huckstadt, V.; Moresco, A.; Obregon, M.G.; Hussen, D.F.; Ashaat, N.A.; Chung, B.H.Y.; Badoe, E.; Faradz, S.M.H.; El Ruby, M.O.; Shotelersuk, V.; Wonkam, A.; Ekure, E.N.; Phadke, S.R.; Richieri-Costa, A.; Muenke, M. (2019)
  • Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature 
    Paththinige, Chamara Sampath; Sirisena, Nirmala Dushyanthi; Escande, Fabienne; Manouvrier, Sylvie; Petit, Florence; Dissanayake, Vajira Harshadeva Weerabaddana (2019)
  • The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans 
    Paththinige, Chamara S.; Sirisena, Nirmala D.; Kariyawasam, U.G.I.U.; Dissanayake, Vajira H.W. (2019)
  • Noonan syndrome in diverse populations 
    Kruszka, P.; Porras, A.R.; Addissie, Y.A.; Moresco, A.; Medrano, S.; Mok, G.T.K.; Leung, G.K.C.; Tekendo-Ngongang, C.; Uwineza, A.; Thong, M.K.; Muthukumarasamy, P.; Honey, E.; Ekure, E.N.; Sokunbi, O.J.; Kalu, N.; Jones, K.L.; Kaplan, J.D.; Abdul-Rahman, O.A.; Vincent, L.M.; Love, A.; Belhassan, K.; Ouldim, K.; EI Bouchikhi, I.; Shukla, A.; Girisha, K.M.; Sirisena, N.D.; Dissanayake, V.H.W.; Paththinige, C.S.; Mishra, R.; Klein-Zighelboim, E.; Gallardo Jugo, B.E.; Chavez Pastor, M.; Abarca-Barriga, H.H.; Skinner, S.A.; Prijoles, E.J.; Badoe, E.; Gill, A.D.; Shotelersuk, V.; Smpokou, P.; Kisling, M.S.; Ferreira, C.R.; Mutesa, L.; Megarbane, A.; Kline, A.D.; KKimball, A.; Okello, E.; Lwabi, P.; Aliku, T.; Tenywa, E.; Boonchooduang, N.; Tanpaiboon, P.; Richieri-Costa, A.; Wonkam, A.; Chung, B.H.Y.; Stevenson, R.E.; Summar, M.; Mandal, K.; Phadke, S.R.; Obregon, M.G.; Linguraru, M.G.; Muenke, M. (American Journal of medical genetics, 2017-07-27)
  • Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature 
    Paththinige, C.S.; Sirisena, N.D.; Kariyawasam, U.G.I.U.; Kumara, Saman L.P.C.; Dissanayake, V.H.W. (Hindawi, 2016)