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Results 51-60 of 173 (Search time: 0.001 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityWhibley, A.; Plagnol, V.; Tarpey, P.; Abidi, F.; Fullston, T.; Choma, M.; Boucher, C.; Shepherd, L.; Willatt, L.; Parkin, G.; Smith, R.; Futreal, P.; Shaw, M.; Boyle, J.; Licata, A.; Skinner, C.; Stevenson, R.; Turner, G.; Field, M.; Hackett, A.; et al.
2010Past medical history and pancreatic cancer risk: Results from a multicenter case-control studyMaisonneuve, P.; Lowenfels, A.; Bueno-de-Mesquita, H.; Ghadirian, P.; Baghurst, P.; Zatonski, W.; Miller, A.; Duell, E.; Boffetta, P.; Boyle, P.
2010Cryogenic burns from intentional use of aerosol spray in children: An emerging phenomenonStefanutti, G.; Yee, J.; Sparnon, A.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2010A role for the phosphatidylinositol 3-kinase - protein kinase C zeta - Sp1 pathway in the 1,25-dihydroxyvitamin D3 induction of the 25-hydroxyvitamin D3 24-hydroxylase gene in human kidney cellsDwivedi, P.; Gao, X.; Tan, J.; Evdokiou, A.; Ferrante, A.; Morris, H.; May, B.; Hii, C.
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2010Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determinationPearlman, 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.
2010Determination of urinary oligosaccharides by high-performance liquid chromatography/electrospray ionization-tandem mass spectrometry: Application to Hunter syndromeNielsen, T.; Rozek, T.; Hopwood, J.; Fuller, M.
2010Cretinism revisitedChen, Z.; Hetzel, B.
2010Socioeconomic risk factors for mental health problems in 4-5-year-old children: Australian population studyDavis, E.; Sawyer, M.; Lo, S.; Priest, N.; Wake, M.