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Issue Date
Title
Author(s)
2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
Harmatz, P.
;
Yu, Z.
;
Giugliani, R.
;
Schwartz, I.
;
Guffon, N.
;
Teles, E.
;
Miranda, C.
;
Wraith, J.
;
Beck, M.
;
Arash, L.
;
Scarpa, M.
;
Ketteridge, D.
;
Hopwood, J.
;
Plecko, B.
;
Steiner, R.
;
Whitley, C.
;
Kaplan, P.
;
Swiedler, S.
;
Hardy, K.
;
Berger, K.
;
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
Evidence that opioids may have toll-like receptor 4 and MD-2 effects
Hutchinson, M.
;
Zhang, Y.
;
Shridhar, M.
;
Evans, J.
;
Buchanan, M.
;
Zhao, T.
;
Slivka, P.
;
Coats, B.
;
Rezvani, N.
;
Wieseler-Frank, J.
;
Hughes, T.
;
Landgraf, K.
;
Chan, S.
;
Fong, S.
;
Phipps, S.
;
Falke, J.
;
Maier, S.
;
Leinwand, L.
;
Yin, H.
;
Rice, K.
;
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
Gastroparesis and functional dyspepsia: excerpts from the AGA/ANMS meeting
Parkman, H.
;
Camilleri, M.
;
Farrugia, G.
;
McCallum, R.
;
Bharucha, A.
;
Mayer, E.
;
Tack, J.
;
Spiller, R.
;
Horowitz, M.
;
Vinik, A.
;
Galligan, J.
;
Pasricha, P.
;
Kuo, B.
;
Szarka, L.
;
Marciani, L.
;
Jones, K.
;
Parrish, C.
;
Sandroni, P.
;
Abell, T.
;
Ordog, T.
;
et al.
2010
Quality of life after total laparoscopic hysterectomy versus total abdominal hysterectomy for stage I endometrial cancer (LACE): a randomised trial
Janda, M.
;
Gebski, V.
;
Brand, A.
;
Hogg, R.
;
Jobling, T.
;
Land, R.
;
Manolitsas, T.
;
McCartney, A.
;
Nascimento, M.
;
Neesham, D.
;
Nicklin, J.
;
Oehler, M.
;
Otton, G.
;
Perrin, L.
;
Salfinger, S.
;
Hammond, I.
;
Leung, Y.
;
Walsh, T.
;
Sykes, P.
;
Ngan, H.
;
et al.
2010
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans
Avery, D.
;
Deenick, E.
;
Ma, C.
;
Suryani, S.
;
Simpson, N.
;
Chew, G.
;
Chan, T.
;
Palendira, U.
;
Bustamante, J.
;
Boisson-Dupuis, S.
;
Choo, S.
;
Bleasel, K.
;
Peake, J.
;
King, C.
;
French, M.
;
Engelhard, D.
;
Al-Hajjar, S.
;
Al-Muhsen, S.
;
Magdorf, K.
;
Roesler, J.
;
et al.
2010
IFPA Meeting 2009 Workshops Report
Lash, G.
;
Burton, G.
;
Chamley, L.
;
Clifton, V.
;
Constancia, M.
;
Crocker, I.
;
Dantzer, V.
;
Desoye, G.
;
Drewlo, S.
;
Hemmings, D.
;
Hiendleder, S.
;
Kalionis, B.
;
Keelan, J.
;
Kudo, Y.
;
Lewis, R.
;
Manuelpillai, U.
;
Murthi, P.
;
Natale, D.
;
Pfarrer, C.
;
Robertson, S.
;
et al.
Discover
Author
4
Bloemenkamp, K.
3
Porath, M.
3
Schwartz, C.
3
van der Post, J.
2
Abidi, F.
2
Ardley, J.
2
Bekedam, D.
2
Benders, M.
2
Berndt, S.
2
Bijlenga, D.
.
next >
Subject
27
Humans
18
Female
11
Male
8
Pregnancy
6
Adult
6
Mutation
6
Polymorphism, Single Nucleotide
5
Genome-Wide Association Study
4
Child
4
Genetic Predisposition to Disease
.
next >