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Results 41-50 of 119 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2008Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental RetardationMolinari, F.; Foulquier, F.; Tarpey, P.; Morelle, W.; Boissel, S.; Teague, J.; Edkins, S.; Futreal, P.; Stratton, M.; Turner, G.; Matthijs, G.; Gecz, J.; Munnich, A.; Colleaux, L.
2005Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriersChenevix-Trench, G.; Sinilnikova, O.; Suthers, G.; Pandeya, N.; Mazoyer, S.; Sambrook, J.; Goldup, S.; Goldgar, D.; Lynch, H.; Lenoir, G.; Cheetham, G.
2004Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex familiesMarini, C.; Scheffer, I.; Crossland, K.; Grinton, B.; Phillips, F.; McMahon, J.; Turner, S.; Dean, J.; Kivity, S.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Harkin, L.; Dibbens, L.; Wallace, R.; Mulley, J.; Berkovic, S.
2007Increased intracellular T helper 1 proinflammatory cytokine production in peripheral blood, bronchoalveolar lavage and intraepithelial T cells of COPD subjectsHodge, G.; Nairn, J.; Holmes, M.; Reynolds, P.; Hodge, S.
1998Autosomal dominant Klippel-Feil anomaly with cleft palateThompson, E.; Haan, E.; Sheffield, L.
2007Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapyKarageorgos, L.; Brooks, D.; Harmatz, P.; Ketteridge, D.; Pollard, A.; Melville, E.; Parkinson-Lawrence, E.; Clements, P.; Hopwood, J.
2003Pharmacodynamics and dosing of aminoglycosidesTurnidge, J.
2000Quality of life of mothers and families caring for preterm infants requiring home oxygen therapy: A brief reportMcLean, A.; Townsend, A.; Clark, J.; Sawyer, M.; Baghurst, P.; Haslam, R.; Whaites, L.
2004Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationFreude, 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.