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Superoxide dismutase 1 and 2 gene polymorphism in Turkish vitiligo patients by Tuna A, Ozturk G, Gerceker TB, Karaca E, Onay H, Guvenc SM, Cogulu O
Published 2017-12-01
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. by Rainger, J, Pehlivan, D, Johansson, S, Bengani, H, Sanchez-Pulido, L, Williamson, K, Ture, M, Barker, H, Rosendahl, K, Spranger, J, Horn, D, Meynert, A, Floyd, J, Prescott, T, Anderson, C, Rainger, J, Karaca, E, Gonzaga-Jauregui, C, Jhangiani, S, Muzny, D, Seawright, A, Soares, D, Kharbanda, M, Murday, V, Finch, A
Published 2014Journal article -
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Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder by Dias, CM, Punetha, J, Zheng, C, Mazaheri, N, Rad, A, Efthymiou, S, Petersen, A, Dehghani, M, Pehlivan, D, Partlow, JN, Posey, JE, Salpietro, V, Gezdirici, A, Malamiri, RA, Menabawy, NM, Selim, LA, Mehrjardi, MY, Banu, S, Polla, DL, Yang, E, Varaghchi, J, Mitani, T, Van Beusekom, E, Najafi, M, Sedaghat, A, Keller-Ramey, J, Durham, L, Coban-Akdemir, Z, Karaca, E, Orlova, V, Schaeken, LLM, Sherafat, A, Jhangiani, SN, Stanley, V, Shariati, G, Galehdari, H, Gleeson, JG, Walsh, CA, Lupski, JR, Seiradake, E, Houlden, H, Van Bokhoven, H, Maroofian, R
Published 2019Journal article