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Results 1-10 of 13 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2019Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionGuo, H.; Li, Y.; Shen, L.; Wang, T.; Jia, X.; Liu, L.; Xu, T.; Ou, M.; Hoekzema, K.; Wu, H.; Gillentine, M.A.; Liu, C.; Ni, H.; Peng, P.; Zhao, R.; Zhang, Y.; Phornphutkul, C.; Stegmann, A.P.A.; Prada, C.E.; Hopkin, R.J.; et al.
2013A novel prion disease associated with diarrhea and autonomic neuropathyMead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.
2016Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignanciesLewinsohn, M.; Brown, A.L.; Weinel, L.M.; Phung, C.; Rafidi, G.; Lee, M.K.; Schreiber, A.W.; Feng, J.; Babic, M.; Chong, C.E.; Lee, Y.; Yong, A.; Suthers, G.K.; Poplawski, N.; Altree, M.; Phillips, K.; Jaensch, L.; Fine, M.; D'Andrea, R.J.; Lewis, I.D.; et al.
2012Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in womenPalmer, L.; Fox, C.S.; Liu, Y.; White, C.C.; Feitosa, M.; Smith, A.V.; Heard-Costa, N.; Lohman, K.; GIANT Consortium,; MAGIC Consortium,; GLGC Consortium,; Johnson, A.D.; Foster, M.C.; Greenawalt, D.M.; Griffin, P.; Ding, J.; Newman, A.B.; Tylavsky, F.; Miljkovic, I.; Kritchevsky, S.B.; et al.; Bray, M.
2012FTO genotype is associated with phenotypic variability of body mass indexYang, J.; Loos, R.; Powell, J.; Medland, S.; Speliotes, E.; Chasman, D.; Rose, L.; Thorleifsson, G.; Steinthorsdottir, V.; Mägi, R.; Waite, L.; Smith, A.; Yerges-Armstrong, L.; Monda, K.; Hadley, D.; Mahajan, A.; Li, G.; Kapur, K.; Vitart, V.; Huffman, J.; et al.
2011Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource StudyFox, E.; Young, J.; Li, Y.; Dreisbach, A.; Keating, B.; Musani, S.; Liu, K.; Morrison, A.; Ganesh, S.; Kutlar, A.; Ramachandran, V.; Polak, J.; Fabsitz, R.; Dries, D.; Farlow, D.; Redline, S.; Adeyemo, A.; Hirschorn, J.; Sun, Y.; Wyatt, S.; 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.
2012KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathyWeckhuysen, S.; Mandelstam, S.; Suls, A.; Audenaert, D.; Deconinck, T.; Claes, L.; Deprez, L.; Smets, K.; Hristova, D.; Yordanova, I.; Jordanova, A.; Ceulemans, B.; Jansen, A.; Hasaerts, D.; Roelens, F.; Lagae, L.; Yendle, S.; Stanley, T.; Heron, S.; Mulley, J.; 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 genome-wide significant linkage for severe depression on chromosome 3: the depression network studyBreen, G.; Webb, B.; Butler, A.; van den Oord, E.; Tozzi, F.; Craddock, N.; Gill, M.; Korszun, A.; Maier, W.; Middleton, L.; Mors, O.; Owen, M.; Cohen-Woods, S.; Perry, J.; Galwey, N.; Upmanyu, R.; Craig, I.; Lewis, C.; Ng, M.; Brewster, S.; et al.

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