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Results 1-10 of 13 (Search time: 0.006 seconds).
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Issue DateTitleAuthor(s)
2007The Adrenal glands and their functionsde Silva, D.C.; Wijesiriwardena, B.
2007Peer evaluation of individual effort in student group workRoshini, A.A.N.; de Silva, D.C.; Chandratilake, M.N.; Pathmeswaran, A.
2007Adrenal insufficiencyWijesiriwardena, B.; de Silva, D.C.
2013FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylySimonis, N.; Migeotte, I.; Lambert, N.; Perazzolo, C.; de Silva, D.C.; Dimitrov, B.; Heinrichs, C.; Janssens, S.; Kerr, B.; Mortier, G.; Van Vliet, G.; Lepage, P.; Casimir, G.; Abramowicz, M.; Smits, G.; Vilain, C.
2007Adrenal hypersecretionWijesiriwardena, B.; de Silva, D.C.
2008Attitudes toward prenatal diagnosis and termination of pregnancy for genetic disorders among healthcare workers in a selected setting in Sri Lankade Silva, D.C.; Jayawardana, P.; Hapangama, A.; Suraweera, E.G.D.N.; Ranjani, D.; Fernando, S.; Karunasena, C.; Jinadasa, S.
2016Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.Haghighi, A.; Kavehmanesh, Z.; Haghighi, A.; Salehzadeh, F.; Santos-Simarro, F.; Van Maldergem, L.; Cimbalistiene, L.; Collins, F.; Chopra, M.; Al-Sinani, S.; Dastmalchian, S.; de Silva, D.C.; Bakhti, H.; Garg, A.; Hilbert, P.
2013Soto syndrome: a rare overgrowth disorderde Silva, D.C.; de Leeuw, N.; Gunasekera, R.
2021Genome sequencing in families with congenital limb malformationsElsner, J.; Mensah, M.A.; Holtgrewe, M.; Hertzberg, J.; Bigoni, S.; Busche, A.; Coutelier, M.; de Silva, D.C.; Elçioglu, N.; Filges, I.; Gerkes, E.; Girisha, K.M.; Graul-Neumann, L.; Jamsheer, A.; Krawitz, P.; Kurth, I.; Markus, S.; Megarbane, A.; Reis, A.; Reuter, M.S.; Svoboda, D.; Teller, C.; Tuysuz, B.; Türkmen, S.; Wilson, M.; Woitschach, R.; Vater, I.; Caliebe, A.; Hülsemann, W.; Horn, D.; Mundlos, S.; Spielmann, M.
2019Biallelic variants in DNA2 cause microcephalic primordial dwarfism.Tarnauskaitė, Z.; Bicknell, L.S.; Marsh, J.A.; Murray, J.E.; Parry, D.A.; Logan, C.V.; Bober, M.B.; de Silva, D.C.; Duker, A.L.; Sillence, D.; Wise, C.; Jackson, A.P.; Murina, O.; Reijns, M.A.M.