8 results for author:"Rump P." in Literature citations
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| Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Astuti D., Morris M.R., Cooper W.N., Staals R.H., Wake N.C., Fews G.A., Gill H., Gentle D., Shuib S., Ricketts C.J. et al. |
| Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. Rump P., Jongbloed J.D., Sikkema-Raddatz B., Mundlos S., Klopocki E., van der Luijt R.B. Am. J. Med. Genet. A 155A:2566-2570(2011) · Mapped (12) |
| A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Rump P., Niessen R.C., Verbruggen K.T., Brouwer O.F., de Raad M., Hordijk R. Clin. Genet. 79:183-188(2011) · Mapped (9) |
| Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. van der Hout A.H., Oudesluijs G.G., Venema A., Verheij J.B.G.M., Mol B.G.J., Rump P., Brunner H.G., Vos Y.J., van Essen A.J. Eur. J. Hum. Genet. 16:673-679(2008) · UniProtKB (3) · Mapped (3) |
| Insulin resistance, physical fitness, body composition and leptin concentration in 7-8 year-old children. Slinger J.D., van Breda E., Keizer H., Rump P., Hornstra G., Kuipers H. J Sci Med Sport 11:132-138(2008) · Mapped (5) |
| A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Bicknell L.S., Farrington-Rock C., Shafeghati Y., Rump P., Alanay Y., Alembik Y., Al-Madani N., Firth H., Karimi-Nejad M.H., Kim C.A. et al. |
| Mutations in two regions of FLNB result in atelosteogenesis I and III. Farrington-Rock C., Firestein M.H., Bicknell L.S., Superti-Furga A., Bacino C.A., Cormier-Daire V., Le Merrer M., Baumann C., Roume J., Rump P. et al. Hum. Mutat. 27:705-710(2006) · Mapped (3) |
| Interaction between a common variant of the cholesteryl ester transfer protein gene and the apolipoprotein E polymorphism: effects on plasma lipids and lipoproteins in a cohort of 7-year-old children. Rump P., Mensink R.P., Hornstra G. Nutr Metab Cardiovasc Dis 12:317-324(2002) · Mapped (11) |