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PreviewIssue DateTitleAuthor(s)
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.
2006Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiencyKnisely, A.; Strautnieks, S.; Meier, Y.; Stieger, B.; Byrne, J.; Portmann, B.; Bull, L.; Pawlikowska, L.; Bilezikci, B.; Ozcay, F.; Laszlo, A.; Tiszlavicz, L.; Moore, L.; Raftos, J.; Arnell, H.; Fischler, B.; Nemeth, A.; Papadogiannakis, N.; Cielecka-Kuszyk, J.; Jankowska, I.; et al.
2019A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiencyVolpi, S.; Cicalese, M.P.; Tuijnenburg, P.; Tool, A.T.J.; Cuadrado, E.; Abu-Halaweh, M.; Ahanchian, H.; Alzyoud, R.; Akdemir, Z.C.; Barzaghi, F.; Blank, A.; Boisson, B.; Bottino, C.; Brigida, I.; Caorsi, R.; Casanova, J.L.; Chiesa, S.; Chinn, I.K.; Dückers, G.; Enders, A.; 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.
2013Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeAoki, Y.; Niihori, T.; Banjo, T.; Okamoto, N.; Mizuno, S.; Kurosawa, K.; Ogata, T.; Takada, F.; Yano, M.; Ando, T.; Hoshika, T.; Barnett, C.; Ohashi, H.; Kawame, H.; Hasegawa, T.; Okutani, T.; Nagashima, T.; Hasegawa, S.; Funayama, R.; Nagashima, T.; et al.
2022Treatment patterns and frequency of key outcomes in acute severe asthma in children: A Paediatric Research in Emergency Departments International Collaborative (PREDICT) multicentre cohort studyCraig, S.; Powell, C.V.E.; Nixon, G.M.; Oakley, E.; Hort, J.; Armstrong, D.S.; Ranganathan, S.; Kochar, A.; Wilson, C.; George, S.; Phillips, N.; Furyk, J.; Lawton, B.; Borland, M.L.; O'Brien, S.; Neutze, J.; Lithgow, A.; Mitchell, C.; Watkins, N.; Brannigan, D.; et al.
2012Death adder envenoming causes neurotoxicity not reversed by antivenom - Australian snakebite project (ASP-16)Johnston, C.; O'Leary, M.; Brown, S.; Currie, B.; Halkidis, L.; Whitaker, R.; Close, B.; Isbister, G.; Nagree, Y.; Ker, F.; Greene, S.; Taylor, M.; Macrokanis, C.; Wilke, G.; Coulson, A.; Barnes, C.; Bonni, R.; Whitake, R.; Halkidis, L.; Isbiste, G.; et al.; de Silva, J.
2021Diagnostic yield of whole genome sequencing after non-diagnostic exome sequencing or gene panel in developmental and epileptic encephalopathiesPalmer, E.E.; Sachdev, R.; Macintosh, R.; Genetic Counselling, G.D.; Melo, U.S.; Mundlos, S.; Righetti, S.; Kandula, T.; Minoche, A.E.; Puttick, C.; Gayevskiy, V.; Hesson, L.; Idrisoglu, S.; Shoubridge, C.; Thai, M.H.N.; Davis, R.L.; Drew, A.P.; Sampaio, H.; Andrews, P.I.; Lawson, J.; et al.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.

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