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Results 1-10 of 22 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2010The structure of the talin/integrin complex at a lipid bilayer: an NMR and MD simulation studyKalli, A.; Wegener, K.; Goult, B.; Anthis, N.; Campbell, I.; Sansom, M.
2010Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: Case reportMuller, K.; Padbury, R.; Jeffrey, G.; Poplawski, N.; Thompson, P.; Tonkin, A.; Harley, H.
2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
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.
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.
2010Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genesCarmichael, C.; Wilkins, E.; Bengtsson, H.; Horwitz, M.; Speed, T.; Vincent, P.; Young, G.; Hahn, C.; Escher, J.; Scott, H.
2010Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndromeJongmans, M.; Kuiper, R.; Carmichael, C.; Wilkins, E.; Dors, N.; Carmagnac, A.; Schouten-van Meeteren, N.; Li, X.; Stankovic, M.; Kamping, E.; Bengtsson, H.; Schoenmakers, M.; Geurts van Kessel, A.; Hoogerbrugge, P.; Hahn, C.; Brons, P.; Scott, H.; Hoogerbrugge, N.
2010Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityShoubridge, C.; Tarpey, P.; Abidi, F.; Ramsden, S.; Rujirabanjerd, S.; Murphy, J.; Boyle, J.; Shaw, M.; Gardner, A.; Proos, A.; Puusepp, H.; Raymond, F.; Schwartz, C.; Stevenson, R.; Turner, G.; Field, M.; Walikonis, R.; Harvey, R.; Hackett, A.; Futreal, P.; et al.
2010Coupling of receptor conformation and ligand orientation determine graded activityBruning, J.; Parent, A.; Gil, G.; Zhao, M.; Nowak, J.; Pace, M.; Smith, C.; Afonine, P.; Adams, P.; Katzenellenbogen, J.; Nettles, K.