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Results 21-30 of 84 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2012A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityHuang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
2010Augmented currents of an HCN2 variant in patients with febrile seizure syndromesDibbens, L.; Reid, C.; Hodgson, B.; Thomas, E.; Phillips, A.; Gazina, E.; Cromer, B.; Clarke, A.; Barram, T.; Scheffer, I.; Berkovic, S.; Petrou, S.
2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al.
2015HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.
2013Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeAoki, Y.; Niihori, T.; Banjo, T.; Okamoto, N.; Mizuno, S.; Kurosawa, K.; Ogata, T.; Takada, F.; Yano, M.; Ando, T.; Hoshika, T.; Barnett, C.; Ohashi, H.; Kawame, H.; Hasegawa, T.; Okutani, T.; Nagashima, T.; Hasegawa, S.; Funayama, R.; Nagashima, T.; et al.
2013Lifting the silver flakes: the pathogenesis and management of chronic plaque psoriasisChong, H.; Kopecki, Z.; Cowin, A.
2014Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulationLee, K.; Mattiske, T.; Kitamura, K.; Gecz, J.; Shoubridge, C.
2013The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowthJolly, L.; Homan, C.; Jacob, R.; Barry, S.; Gecz, J.
2015Oocyte induction of EGF responsiveness in somatic cells is associated with the acquisition of porcine oocyte developmental competenceRitter, L.; Sugimura, S.; Gilchrist, R.
2015Redox and anti-oxidant state within cattle oocytes following in vitro maturation with bone morphogenetic protein 15 and follicle stimulating hormoneSutton-McDowall, M.; Purdey, M.; Brown, H.; Abell, A.; Mottershead, D.; Cetica, P.; Dalvit, G.; Goldys, E.; Gilchrist, R.; Gardner, D.; Thompson, J.

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