Items where Author is "Gleeson, J. G."

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Ghosh, S. G. and Becker, K. and Huang, H. and Dixon-Salazar, T. and Chai, G. and Salpietro, V. and Al-Gazali, L. and Waisfisz, Q. and Wang, H. and Vaux, K. K. and Stanley, V. and Manole, A. and Akpulat, U. and Weiss, M. M. and Efthymiou, S. and Hanna, M. G. and Minetti, C. and Striano, P. and Pisciotta, L. and De Grandis, E. and Altmüller, J. and Nürnberg, P. and Thiele, H. and Yis, U. and Okur, T. D. and Polat, A. I. and Amiri, N. and Doosti, M. and Karimani, E. G. and Toosi, M. B. and Haddad, G. and Karakaya, M. and Wirth, B. and van Hagen, J. M. and Wolf, N. I. and Maroofian, R. and Houlden, H. and Cirak, S. and Gleeson, J. G. (2018) Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics, 103 (3). pp. 431-439.

Makrythanasis, P. and Maroofian, R. and Stray-Pedersen, A. and Musaev, D. and Zaki, M. S. and Mahmoud, I. G. and Selim, L. and Elbadawy, A. and Jhangiani, S. N. and Coban Akdemir, Z. H. and Gambin, T. and Sorte, H. S. and Heiberg, A. and McEvoy-Venneri, J. and James, K. N. and Stanley, V. and Belandres, D. and Guipponi, M. and Santoni, F. A. and Ahangari, N. and Tara, F. and Doosti, M. and Iwaszkiewicz, J. and Zoete, V. and Backe, P. H. and Hamamy, H. and Gleeson, J. G. and Lupski, J. R. and Karimiani, E. G. and Antonarakis, S. E. (2018) Biallelic variants in KIF14 cause intellectual disability with microcephaly. European Journal of Human Genetics, 26 (3). pp. 330-339.

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