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Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia by Marin-Valencia, I, Gerondopoulos, A, Zaki, MS, Ben-Omran, T, Almureikhi, M, Demir, E, Guemez-Gamboa, A, Gregor, A, Issa, MY, Appelhof, B, Roosing, S, Musaev, D, Rosti, B, Wirth, S, Stanley, V, Baas, F, Barr, FA, Gleeson, JG
Published 2017Journal 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