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Results 21-30 of 37 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2008SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
2010PHF6 mutations in T-cell acute lymphoblastic leukemiaVan Vlierberghe, P.; Palomero, T.; Khiabanian, H.; Van der Meulen, J.; Castillo, M.; Van Roy, N.; De Moerloose, B.; Philippe, J.; Gonzalez-Garcia, M.; Toribio, M.; Taghon, T.; Zuurbier, L.; Cauwelier, B.; Harrison, C.; Schwab, C.; Pisecker, M.; Strehl, S.; Langerak, A.; Gecz, J.; Sonneveld, E.; 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.
2007An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlationUpadyaya, M.; Huson, S.; Davies, M.; Thomas, N.; Chuzhanova, N.; Giovannini, S.; Evans, D.; Howard, E.; Kerr, B.; Kerr, B.; Consoli, C.; Side, L.; Adams, D.; Pierpont, M.; Hatchen, R.; Barnicoat, A.; Li, H.; Wallace, P.; Van Biervliet, J.; Stevenson, D.; et al.
2002ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationBienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L.; Zemni, R.; Vinet, M.; Francis, F.; Couvert, P.; Gomot, M.; Moraine, C.; van Bokhoven, H.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.; 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.
2016Health in times of uncertainty in the eastern Mediterranean region, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013Mokdad, A.; Forouzanfar, M.; Daoud, F.; El Bcheraoui, C.; Moradi-Lakeh, M.; Khalil, I.; Afshin, A.; Tuffaha, M.; Charara, R.; Barber, R.; Wagner, J.; Cercy, K.; Kravitz, H.; Coates, M.; Robinson, M.; Estep, K.; Steiner, C.; Jaber, S.; Mokdad, A.; O'Rourke, K.; et al.
2012Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculatureKazenwadel, J.; Secker, G.; Liu, Y.; Rosenfeld, J.; Wildin, R.; Cuellar-Rodriguez, J.; Hsu, A.; Dyack, S.; Fernandez, C.; Chong, C.; Babic, M.; Bardy, P.; Shimamura, A.; Zhang, M.; Walsh, T.; Holland, S.; Hickstein, D.; Horwitz, M.; Hahn, C.; Scott, H.; et al.
2012A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010Lim, S.; Vos, T.; Flaxman, A.; Danaei, G.; Shibuya, K.; Adair-Rohani, H.; AlMazroa, M.; Amann, M.; Anderson, H.; Andrews, K.; Aryee, M.; Atkinson, C.; Bacchus, L.; Bahalim, A.; Balakrishnan, K.; Balmes, J.; Barker-Collo, S.; Baxter, A.; Bell, M.; Blore, J.; et al.
2016The genomic landscape of core-binding factor acute myeloid leukemiasFaber, Z.; Chen, X.; Gedman, A.; Boggs, K.; Cheng, J.; Ma, J.; Radtke, I.; Chao, J.; Walsh, M.; Song, G.; Andersson, A.; Dang, J.; Dong, L.; Liu, Y.; Huether, R.; Cai, Z.; Mulder, H.; Wu, G.; Edmonson, M.; Rusch, M.; et al.

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