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Results 31-40 of 55 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2012KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathyWeckhuysen, S.; Mandelstam, S.; Suls, A.; Audenaert, D.; Deconinck, T.; Claes, L.; Deprez, L.; Smets, K.; Hristova, D.; Yordanova, I.; Jordanova, A.; Ceulemans, B.; Jansen, A.; Hasaerts, D.; Roelens, F.; Lagae, L.; Yendle, S.; Stanley, T.; Heron, S.; Mulley, J.; et al.
2019A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiencyVolpi, S.; Cicalese, M.P.; Tuijnenburg, P.; Tool, A.T.J.; Cuadrado, E.; Abu-Halaweh, M.; Ahanchian, H.; Alzyoud, R.; Akdemir, Z.C.; Barzaghi, F.; Blank, A.; Boisson, B.; Bottino, C.; Brigida, I.; Caorsi, R.; Casanova, J.L.; Chiesa, S.; Chinn, I.K.; Dückers, G.; Enders, A.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2022Treatment patterns and frequency of key outcomes in acute severe asthma in children: A Paediatric Research in Emergency Departments International Collaborative (PREDICT) multicentre cohort studyCraig, S.; Powell, C.V.E.; Nixon, G.M.; Oakley, E.; Hort, J.; Armstrong, D.S.; Ranganathan, S.; Kochar, A.; Wilson, C.; George, S.; Phillips, N.; Furyk, J.; Lawton, B.; Borland, M.L.; O'Brien, S.; Neutze, J.; Lithgow, A.; Mitchell, C.; Watkins, N.; Brannigan, D.; et al.
2012Death adder envenoming causes neurotoxicity not reversed by antivenom - Australian snakebite project (ASP-16)Johnston, C.; O'Leary, M.; Brown, S.; Currie, B.; Halkidis, L.; Whitaker, R.; Close, B.; Isbister, G.; Nagree, Y.; Ker, F.; Greene, S.; Taylor, M.; Macrokanis, C.; Wilke, G.; Coulson, A.; Barnes, C.; Bonni, R.; Whitake, R.; Halkidis, L.; Isbiste, G.; et al.; de Silva, J.
2010Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceTischfield, M.; Baris, H.; Wu, C.; Rudolph, G.; van Maldergem, L.; He, W.; Chan, W.; Andrews, C.; Demer, J.; Robertson, R.; Mackey, D.; Ruddle, J.; Bird, T.; Gottlob, I.; Pieh, C.; Traboulsi, E.; Pomeroy, S.; Hunter, D.; Soul, J.; Newlin, A.; et al.
2008SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
2007Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremorTarpey, P.; Raymond, F.; O'Meara, S.; Edkins, S.; Teague, J.; Butler, A.; Dicks, E.; Stevens, C.; Tofts, C.; Avis, T.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Harrison, R.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; et al.
2007Testing the 8-syndrome structure of the child behavior checklist in 30 societiesIvanova, M.; Achenbach, T.; Dumenci, L.; Rescorla, L.; Almqvist, F.; Weintraub, S.; Bilenberg, N.; Bird, H.; Chen, W.; Dobrean, A.; Dopfner, M.; Erol, N.; Fombonne, E.; Fonseca, A.; Frigerio, A.; Grietens, H.; Hannesdottir, H.; Kanbayashi, Y.; Lambert, M.; Larsson, B.; et al.
2007The generalizability of the Youth Self-Report syndrome structure in 23 societiesIvanova, M.; Achenbach, T.; Dumenci, L.; Bilenberg, N.; Broberg, A.; Dopfner, M.; Forns, M.; Kanbayashi, Y.; Leung, P.; Mulatu, M.; Oh, K.; Sawyer, M.; Steinhausen, H.; Metzke, C.; Zilber, N.; Verhulst, F.; Rescorla, L.; Almqvist, F.; Bird, H.; Dobrean, A.; et al.

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