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Results 1-10 of 11 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2010
Genome-wide association study identifies five loci associated with lung function
Repapi, E.
;
Sayers, I.
;
Wain, L.
;
Burton, P.
;
Johnson, T.
;
Obeidat, M.
;
Zhao J-, H.
;
Ramasamy, A.
;
Zhai, G.
;
Vitart, V.
;
Huffman, J.
;
Igl, W.
;
Albrecht, E.
;
Deloukas, P.
;
Henderson, J.
;
Granell, R.
;
McArdle, W.
;
Rudnicka, A.
;
Wellcome Trust Case Control Consortium,
;
Barroso, I.
;
et al.
2010
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Heid, I.
;
Jackson, A.
;
Randall, J.
;
Winkler, T.
;
Qi, L.
;
Steinthorsdottir, V.
;
Thorleifsson, G.
;
Zillikens, M.
;
Speliotes, E.
;
Magi, R.
;
Workalemahu, T.
;
White, C.
;
Bouatia-Naji, N.
;
Harris, T.
;
Berndt, S.
;
Ingelsson, E.
;
Willer, C.
;
Weedon, M.
;
Luan, J.
;
Vedantam, S.
;
et al.
2010
Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight
Freathy, R.
;
Mook-Kanamori, D.
;
Sovio, U.
;
Prokopenko, I.
;
Timpson, N.
;
Berry, D.
;
Warrington, N.
;
Widen, E.
;
Jan Hottenga, J.
;
Kaakinen, M.
;
Lange, L.
;
Bradfield, J.
;
Kerkhof, M.
;
Marsh, J.
;
Mägi, R.
;
Chen, C.-M.
;
Lyon, H.
;
Kirin, M.
;
Adair, L.
;
Aulchenko, Y.
;
et al.
2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
Whibley, 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.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, 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.
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.
2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Tischfield, M.
;
Baris, H.
;
Wu, C.
;
Rudolph, G.
;
van Maldergem, L.
;
He, W.
;
Chan, W.
;
Andrews, C.
;
Demer, J.
;
Robertson, R.
;
Mackey, D.
;
Ruddle, J.
;
Bird, T.
;
Gottlob, I.
;
Pieh, C.
;
Traboulsi, E.
;
Pomeroy, S.
;
Hunter, D.
;
Soul, J.
;
Newlin, A.
;
et al.
2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Shoubridge, 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.
2010
PHF6 mutations in T-cell acute lymphoblastic leukemia
Van Vlierberghe, P.
;
Palomero, T.
;
Khiabanian, H.
;
Van der Meulen, J.
;
Castillo, M.
;
Van Roy, N.
;
De Moerloose, B.
;
Philippe, J.
;
Gonzalez-Garcia, M.
;
Toribio, M.
;
Taghon, T.
;
Zuurbier, L.
;
Cauwelier, B.
;
Harrison, C.
;
Schwab, C.
;
Pisecker, M.
;
Strehl, S.
;
Langerak, A.
;
Gecz, J.
;
Sonneveld, E.
;
et al.
2010
Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry
Walsh, M.
;
Buchanan, D.
;
Cummings, M.
;
Pearson, S.
;
Arnold, S.
;
Clendenning, M.
;
Walters, R.
;
McKeone, D.
;
Spurdle, A.
;
Hopper, J.
;
Jenkins, M.
;
Phillips, K.
;
Suthers, G.
;
George, J.
;
Goldblatt, J.
;
Muir, A.
;
Tucker, K.
;
Pelzer, E.
;
Gattas, M.
;
Woodall, S.
;
et al.
Discover
Author
2
Abidi, F.
2
Boyle, J.
2
Field, M.
2
Futreal, P.
2
Gecz, J.
2
Hackett, A.
2
Schwartz, C.
2
Shaw, M.
2
Skinner, C.
2
Stevenson, R.
.
next >
Subject
11
Humans
10
Female
5
Mutation
4
Pedigree
3
Animals
3
Chromosomes, Human, X
3
Cohort Studies
2
Adult
2
Amino Acid Sequence
2
Brain
.
next >