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Results 11-20 of 91 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2000Molecular cloning and characterisation of GPR74 a novel G-protein coupled receptor closest related to the Y-receptor familyParker, R.; Copeland, N.; Eyre, H.; Liu, M.; Gilbert, D.; Crawford, J.; Couzens, M.; Sutherland, G.; Jenkins, N.; Herzog, H.
2000Cloning, expression and chromosomal localization of a novel human dipeptidyl peptidase (DDP) IV homolog, DPP8Abbott, C.; Yu, D.; Woollatt, E.; Sutherland, G.; McCaughan, G.; Gorrell, M.
2015A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMuona, M.; Berkovic, S.; Dibbens, L.; Oliver, K.; Maljevic, S.; Bayly, M.; Joensuu, T.; Canafoglia, L.; Franceschetti, S.; Michelucci, R.; Markkinen, S.; Heron, S.; Hildebrand, M.; Andermann, E.; Andermann, F.; Gambardella, A.; Tinuper, P.; Licchetta, L.; Scheffer, I.; Criscuolo, C.; et al.
2001HPP1: A transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancersYoung, J.; Biden, K.; Simms, L.; Huggard, P.; Karamatic, R.; Eyre, H.; Sutherland, G.; Herath, N.; Barker, M.; Anderson, G.; Fitzpatrick, D.; Ramm, G.; Jass, J.; Leggett, B.
2005Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.; Vincent-Delorme, C.; Theirry, P.; Edwards, M.; Konig, R.; Rusu, C.; Schweiger, S.; Thompson, E.; Tinschert, S.; Stewart, F.; Wieacker, P.
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.
2007Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variantsHeron, S.; Khosravani, H.; Varela, D.; Bladen, C.; Williams, T.; Newman, M.; Scheffer, I.; Berkovic, S.; Mulley, J.; Zamponi, G.
1998Development of a two-dimensional gel electrophoresis database of human lysosomal proteinsChataway, T.; Whittle, A.; Lewis, M.; Bindloss, C.; Moritz, R.; Simpson, R.; Hopwood, J.; Meikle, P.
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.
2006Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationHagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Van Zutven, L.; Hoeltzenbein, M.; Tommerup, N.; Moraine, C.; Fryns, J.; Chelly, J.; van Bokhoven, H.; Gecz, J.; Dollfus, H.; Ropers, H.; Schwartz, C.; de Cassia Stocco dos Santos, R.; Kalscheuer, V.; Hanauer, A.