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Results 21-30 of 55 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2013Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathyGupta, V.; Ravenscroft, G.; Shaheen, R.; Todd, E.; Swanson, L.; Shiina, M.; Ogata, K.; Hsu, C.; Clarke, N.; Darras, B.; Farrar, M.; Hashem, A.; Manton, N.; Muntoni, F.; North, K.; Sandaradura, S.; Nishino, I.; Hayashi, Y.; Sewry, C.; Thompson, E.; 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.
2012A genome-wide association meta-analysis identifies new childhood obesity lociBradfield, J.; Taal, H.; Timpson, N.; Scherag, A.; Lecoeur, C.; Warrington, N.; Hypponen, E.; Holst, C.; Valcarcel, B.; Thiering, E.; Salem, R.; Schumacher, F.; Cousminer, D.; Sleiman, P.; Jianhua, Z.; Berkowitz, R.; Vimaleswaran, K.; Ivonne, J.; Pennell, C.; Evans, D.; 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.
2011Association of genetic loci with glucose levels in childhood and adolescence: a meta-analysis of over 6,000 childrenBarker, A.; Sharp, S.; Timpson, N.; Bouatia-Naji, N.; Warrington, N.; Kanoni, S.; Beilin, L.; Brage, S.; Deloukas, P.; Evans, D.; Grontved, A.; Hassanali, N.; Lawlor, D.; Lecoeur, C.; Loos, R.; Lye, S.; McCarthy, M.; Mori, T.; Coumba Ndiaye, N.; Newnham, J.; et al.
2013Rare variants in single-minded 1 (SIM1) are associated with severe obesityRamachandrappa, S.; Raimondo, A.; Cali, A.; Keogh, J.; Henning, E.; Saeed, S.; Thompson, A.; Garg, S.; Bochukova, E.; Brage, S.; Trowse, V.; Wheeler, E.; Sullivan, A.; Dattani, M.; Clayton, P.; Datta, V.; Bruning, J.; Wareham, N.; O'Rahilly, S.; Peet, D.; 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.
2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; 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.

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