1. Adelaide Research & Scholarship

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Results 1-10 of 27 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2017Epiregulin and EGFR interactions are involved in pain processingMartin, L.J.; Smith, S.B.; Khoutorsky, A.; Magnussen, C.A.; Samoshkin, A.; Sorge, R.E.; Cho, C.; Yosefpour, N.; Sivaselvachandran, S.; Tohyama, S.; Cole, T.; Khuong, T.M.; Mir, E.; Gibson, D.G.; Wieskopf, J.S.; Sotocinal, S.G.; Austin, J.S.; Meloto, C.B.; Gitt, J.H.; Gkogkas, C.; et al.
2013A phase 2 trial of ponatinib in Philadelphia chromosome-positive leukemiasCortes, J.E.; Kim, D.W.; Pinilla-Ibarz, J.; Le Coutre, P.; Paquette, R.; Chuah, C.; Nicolini, F.E.; Apperley, J.F.; Khoury, H.J.; Talpaz, M.; DiPersio, J.; DeAngelo, D.J.; Abruzzese, E.; Rea, D.; Baccarani, M.; Müller, M.C.; Gambacorti-Passerini, C.; Wong, S.; Lustgarten, S.; Rivera, V.M.; et al.
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
2013Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposityCousminer, D.; Berry, D.; Timpson, N.; Ang, W.; Thiering, E.; Byrne, E.; Taal, H.; Huikari, V.; Bradfield, J.; Kerkhof, M.; Groen-Blokhuis, M.; Kreiner-Møller, E.; Marinelli, M.; Holst, C.; Leinonen, J.; Perry, J.; Surakka, I.; Kettunen, J.; Anttila, V.; Kaakinen, M.; et al.
2013Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapyBraunlin, E.; Rosenfeld, H.; Kampmann, C.; Johnson, J.; Beck, M.; Giugliani, R.; Guffon, N.; Ketteridge, D.; Miranda, C.; Scarpa, M.; Schwartz, I.; Teles, E.; Wraith, J.; Barrios, P.; Dias da Silva, E.; Kurio, G.; Richardson, M.; Gildengorin, G.; Hopwood, J.; Imperiale, M.; et al.
2013Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like featuresBonnefond, A.; Raimondo, A.; Stutzmann, F.; Ghoussaini, M.; Ramachandrappa, S.; Bersten, D.; Durand, E.; Vatin, V.; Balkau, B.; Lantieri, O.; Raverdy, V.; Pattou, F.; Van Hul, W.; Van Gaal, L.; Peet, D.; Weill, J.; Miller, J.; Horber, F.; Goldstone, A.; Driscoll, D.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2011A novel recurrent mutation in MITF predisposes to familial and sporadic melanomaYokoyama, S.; Woods, S.; Boyle, G.; Aoude, L.; MacGregor, S.; Zismann, V.; Gartside, M.; Cust, A.; Haq, R.; Harland, M.; Taylor, J.; Duffy, D.; Holohan, K.; Dutton-Regester, K.; Palmer, J.; Bonazzi, V.; Stark, M.; Symmons, J.; Law, M.; Schmidt, C.; et al.
2015Serum levels of human MIC-1/GDF15 vary in a diurnal pattern, do not display a profile suggestive of a satiety factor and are related to BMITsai, V.; Macia, L.; Feinle-Bisset, C.; Manandhar, R.; Astrup, A.; Raben, A.; Lorenzen, J.; Schmidt, P.; Wiklund, F.; Pedersen, N.; Campbell, L.; Kriketos, A.; Xu, A.; Zhou, P.; Jia, W.; Curmi, P.; Angstmann, C.; Lee-Ng, K.; Zhang, H.; Marquis, C.; et al.; Young, M.

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