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| Preview | Issue Date | Title | Author(s) |
| 2005 | Murine HIF-1a localisation by immunohistochemistry in a mouse reproductive tissue | Camp-Dotlic, E.; Froiland, D.; Kind, K.; Irving-Rodgers, H.; Thompson, J.; Russell, D. |
| 2004 | Musculoskeletal disability, chronic disease and labour force participation in Australia | Crotty, M.; Giles, L.; Cameron, I.; Brooks, P. |
| 1997 | Mutation detection in FGFR2 craniosynostosis syndromes | Hollway, G.; Suthers, G.; Haan, E.; Thompson, E.; David, D.; Gecz, J.; Mulley, J. |
| 2007 | Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortium | de Brouwer, A.; Yntema, H.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.; de Vries, B.; van Bokhoven, H.; Van Esch, H.; Frints, S.; Froyen, G.; Fryns, J.; Raynaud, M.; Moizard, M.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; et al. |
| 2006 | Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient | Crawford, J.; Lower, K.; Hennekam, R.; Van Esch, H.; Megarbane, A.; Lynch, S.; Turner, G.; Gecz, J. |
| 2007 | Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation | Chen, W.; Jensen, L.; Gecz, J.; Fryns, J.; Moraine, C.; de Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.; Kuss, A. |
| 2007 | Mutational analysis of 105 mucopolysaccharidosis type VI patients | Karageorgos, L.; Brooks, D.; Pollard, A.; Melville, E.; Hein, L.; Clements, P.; Ketteridge, D.; Swiedler, S.; Beck, M.; Giugliani, R.; Harmatz, P.; Wraith, J.; Guffon, N.; Teles, E.; Miranda, C.; Hopwood, J. |
| 2007 | Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy | Karageorgos, L.; Brooks, D.; Harmatz, P.; Ketteridge, D.; Pollard, A.; Melville, E.; Parkinson-Lawrence, E.; Clements, P.; Hopwood, J. |
| 2004 | Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy | Karageorgos, L.; Harmatz, P.; Simon, J.; Pollard, A.; Clements, P.; Brooks, D.; Hopwood, J. |
| 1996 | Mutational analysis of the carboxy-terminal region of UDP-glucuronosyltransferase 2B1 | Meech, R.; Yogalingam, Gouri; MacKenzie, Peter I. |
| 1997 | Mutations among Italian mucopolysaccharidosis Type I patients | Gatti, R.; Di Natale, P.; Villani, G.; Filocamo, M.; Muller, V.; Guo, X.H.; Nelson, P.; Scott, H.; Hopwood, J. |
| 2003 | Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation | Burdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al. |
| 2007 | Mutations 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 tremor | Tarpey, 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. |
| 2015 | Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling | Snijders Blok, L.; Madsen, E.; Juusola, J.; Gilissen, C.; Baralle, D.; Reijnders, M.; Venselaar, H.; Helsmoortel, C.; Cho, M.; Hoischen, A.; Vissers, L.; Koemans, T.; Wissink-Lindhout, W.; Eichler, E.; Romano, C.; Van Esch, H.; Stumpel, C.; Vreeburg, M.; Smeets, E.; Oberndorff, K.; et al. |
| 2007 | Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans | Wu, Y.; Arai, A.; Rumbaugh, G.; Srivastava, A.; Turner, G.; Hayashi, T.; Suzuki, E.; Jiang, Y.; Zhang, L.; Rodriguez, J.; Boyle, J.; Tarpey, P.; Raymond, F.; Nevelsteen, J.; Froyen, G.; Stratton, M.; Futreal, P.; Gecz, J.; Stevenson, R.; Schwartz, C.; et al. |
| 2014 | Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations | Scheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L. |
| 2010 | Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination | Pearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; et al. |
| 2004 | Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation | Tarpey, P.; Parnau, J.; Blow, M.; Woffendin, H.; Bignell, G.; Cox, C.; Cox, J.; Davies, H.; Edkins, S.; Holden, S.; Korny, A.; Mallya, U.; Moon, J.; O'Meara, S.; Parker, A.; Stephens, P.; Stevens, C.; Teague, J.; Donnelly, A.; Mangelsdorf, M.; et al. |
| 2004 | Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation | Freude, K.; Hoffmann, K.; Jensen, L.; Delatycki, M.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.; Ropers, H. |
| 2001 | Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia | Lachmeijer, A.; Arngrimsson, R.; Bastiaans, E.; Pals, G.; ten Kate, L.; de Vries, J.; Kostense, P.; Aarnoudse, J.; Dekker, G. |
