Search


Current filters:


Start a new search
Add filters:

Use filters to refine the search results.


Results 41-50 of 50 (Search time: 0.004 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2011Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemiaHahn, C.; Chong, C.; Carmichael, C.; Wilkins, E.; Brautigan, P.; Li, X.; Babic, M.; Lin, M.; Carmagnac, A.; Lee, Y.; Kok, C.; Gagliardi, L.; Friend, K.; Ekert, P.; Butcher, C.; Brown, A.; Lewis, I.; To, L.; Timms, A.; Storek, 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.
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
2009Genome sequence, comparative analysis, and population genetics of the domestic horseWade, C.; Giulotto, E.; Sigurdsson, S.; Zoli, M.; Gnerre, S.; Imsland, F.; Lear, T.; Adelson, D.; Bailey, E.; Bellone, R.; Blocker, H.; Distl, O.; Edgar, R.; Garber, M.; Leeb, T.; Mauceli, E.; Macleod, J.; PENEDO, M.; Raison, J.; Sharpe, T.; 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.
2011Identification of SOX3 as an XX male sex reversal gene in mice and humansSutton, E.; Hughes, J.; White, S.; Sekido, R.; Tan, J.; Arboleda, V.; Rogers, N.; Knower, K.; Rowley, L.; Eyre, H.; Rizzoti, K.; McAninch, D.; Golcalves, J.; Slee, J.; Turbitt, E.; Bruno, D.; Bengtsson, H.; Harley, V.; Vilain, E.; Sinclair, A.; et al.
2018Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderFrints, S.G.M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; E Hickey, S.; Kammoun, M.; Gripp, K.W.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B.J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D.C.; et al.
2017A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactationOakes, S.R.; Gallego-Ortega, D.; Stanford, P.M.; Junankar, S.; Au, W.W.Y.; Kikhtyak, Z.; von Korff, A.; Sergio, C.M.; Law, A.M.K.; Castillo, L.E.; Allerdice, S.L.; Young, A.I.J.; Piggin, C.; Whittle, B.; Bertram, E.; Naylor, M.J.; Roden, D.L.; Donovan, J.; Korennykh, A.; Goodnow, C.C.; et al.; Wells, C.A.
202041BB-based and CD28-based CD123-redirected T-cells ablate human normal hematopoiesis in vivoBaroni, M.L.; Sanchez Martinez, D.; Gutierrez Aguera, F.; Roca Ho, H.; Castella, M.; Zanetti, S.; Velasco Hernandez, T.; Diaz de la Guardia, R.; Castaño, J.; Anguita, E.; Vives, S.; Nomdedeu, J.; Lapillone, H.; Bras, A.E.; van der Velden, V.H.J.; Junca, J.; Marin, P.; Bataller, A.; Esteve, J.; Vick, B.; et al.