Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.


Results 11-20 of 22 (Search time: 0.003 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
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.
2013Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horseBellone, R.; Holl, H.; Sealuri, V.; Devi, S.; Maddodi, N.; Archer, S.; Sandmeyer, L.; Ludwig, A.; Foerster, D.; Pruvost, M.; Reissmann, M.; Bortfeldt, R.; Adelson, D.; Lim, S.; Nelson, J.; Haase, B.; Engensteiner, M.; Leeb, T.; Forsyth, G.; Mienaltowski, M.; et al.; Anderson, M.G.
2022BAF complex-mediated chromatin relaxation is required for establishment of X chromosome inactivationKeniry, A.; Jansz, N.; Gearing, L.J.; Wanigasuriya, I.; Chen, J.; Nefzger, C.M.; Hickey, P.F.; Gouil, Q.; Liu, J.; Breslin, K.A.; Iminitoff, M.; Beck, T.; Tapia Del Fierro, A.; Whitehead, L.; Jarratt, A.; Kinkel, S.A.; Taberlay, P.C.; Willson, T.; Pakusch, M.; Ritchie, M.E.; et al.
2008Genome analysis of the platypus reveals unique signatures of evolutionWarren, W.; Hillier, L.; Graves, J.; Birney, E.; Ponting, C.; Grutzner, F.; Belov, K.; Miller, W.; Clarke, L.; Chinwall, A.; Yang, S.; Heger, A.; Locke, D.; Miethke, P.; Waters, P.; Veyrunes, F.; Fulton, L.; Fulton, B.; Graves, T.; Wallis, J.; et al.
2008Effect of 6-month calorie restriction and exercise on serum and liver lipids and markers of liver functionLarson-Meyer, D.; Newcomer, B.; Heilbronn, L.; Volaufova, J.; Smith, S.; Alfonso, A.; Lefevre, M.; Rood, J.; Williamson, D.; Ravussin, E.; DeLany, J.; de Jonge, L.; Nguyen, T.; Martin, C.; Most, M.; Greenway, F.; York-Crowe, E.; Anton, S.; Champagne, C.; Dahmer, B.; 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.
1999Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesMcDermott, M.; Aksentijevich, I.; Galon, J.; McDermott, E.; Ogunkolade, B.; Centola, M.; Mansfield, E.; Gadina, M.; Karenko, L.; Petterson, T.; McCarthy, J.; Frucht, D.; Aringer, M.; Torosyan, Y.; Teppo, A.M.; Wilson, M.; Karaarslan, H.; Wan, Y.; Todd, I.; Wood, G.; 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.
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.