Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
Kumar, Raman, Corbett, Mark A, Smith, Nicholas J C, Jolly, Lachlan A, Tan, Chuan, Keating, Damien J, Duffield, Michael D, Utsumi, Toshihiko, Moriya, Koko, Smith, Katherine R, Hoischen, Alexander, Abbott, Kim, Harbord, Michael G, Compton, Alison G, Woenig, Joshua A, Arts, Peer, Kwint, Michael, Wieskamp, Nienke, Gijsen, Sabine, Veltman, Joris A, Bahlo, Melanie, Gleeson, Joseph G, Haan, Eric, Gecz, Jozef
Published in Human molecular genetics (01.04.2015)
Published in Human molecular genetics (01.04.2015)
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Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH
Nicholl, Jillian, Waters, Wendy, Suwalski, Shanna, Brown, Sue, Hull, Yvonne, Harbord, Michael G., Entwistle, John, Thompson, Suzanna, Clark, Damian, Pridmore, Claire, Haan, Eric, Barnett, Christopher, McGregor, Lesley, Liebelt, Jan, Thompson, Elizabeth M., Friend, Kathryn, Bain, Sharon M., Yu, Sui, Mulley, John C.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2013)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2013)
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Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH
Nicholl, Jillian, Waters, Wendy, Mulley, John C., Suwalski, Shanna, Brown, Sue, Hull, Yvonne, Barnett, Christopher, Haan, Eric, Thompson, Elizabeth M., Liebelt, Jan, Mcgregor, Lesley, Harbord, Michael G., Entwistle, John, Munt, Chris, White, Dierdre, Chitti, Anthony, Baulderstone, David, Ketteridge, David, Friend, Kathryn, Bain, Sharon M., Sui, Y.u.
Published in Pathology (01.01.2014)
Published in Pathology (01.01.2014)
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Infant-onset progressive myoclonus epilepsy
Harbord, M G, Hwang, P A, Robinson, B H, Becker, L E, Hunjan, A, Murphy, E G
Published in Journal of child neurology (01.04.1991)
Published in Journal of child neurology (01.04.1991)
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Intraventricular administration of interferon and administration of methisoprinol by mouth in the treatment of adult-onset subacute sclerosing panencephalitis
Harbord, M G, Jones, T, Hicks, E P, Blumbergs, P C
Published in Medical journal of Australia (02.05.1988)
Published in Medical journal of Australia (02.05.1988)
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