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Results 1-10 of 18 (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.
2011Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and developmentSovio, U.; Mook-Kanamori, D.; Warrington, N.; Lawrence, R.; Briollais, L.; Palmer, C.; Cecil, J.; Sandling, J.; Syvanen, A.; Kaakinen, M.; Beilin, L.; Millwood, I.; Bennett, A.; Laitneen, J.; Pouta, A.; Molitor, J.; Smith, G.; Ben-Shlomo, Y.; Jaddoe, V.; Palmer, L.; et al.; Gibson, G.
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.
2012Common variants at 12q15 and 12q24 are associated with infant head circumferenceTaal, H.; St Pourcain, B.; Thiering, E.; Das, S.; Mook-Kanamori, D.; Warrington, N.; Kaakinen, M.; Kreiner-Møller, E.; Bradfield, J.; Freathy, R.; Geller, F.; Guxens, M.; Cousminer, D.; Kerkhof, M.; Timpson, N.; Arfan Ikram, M.; Beilin, L.; Bønnelykke, K.; Buxton, J.; Charoen, P.; et al.
2012Common variants at 6q22 and 17q21 are associated with intracranial volumeIkram, M.; Fornage, M.; Smith, A.; Seshadri, S.; Schmidt, R.; Debette, S.; Vrooman, H.; Sigurdsson, S.; Ropele, S.; Taal, H.; Mook-Kanamori, D.; Coker, L.; Longstreth Jr, W.; Niessen, W.; DeStefano, A.; Beiser, A.; Zijdenbos, A.; Struchalin, M.; Jack Jr, C.; Rivadeneira, F.; 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.
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.
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.
2015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderKumar, R.; Corbett, M.; Smith, N.; Jolly, L.; Tan, C.; Keating, D.; Duffield, M.; Utsumi, T.; Moriya, K.; Smith, K.; Hoischen, A.; Abbott, K.; Harbord, M.; Compton, A.; Woenig, J.; Arts, P.; Kwint, M.; Wieskamp, N.; Gijsen, S.; Veltman, 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.

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