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Bhuiyan, Z.A.; Klein, M.; Hammond, P.; van Haeringen, A.; Mannens, M.M.A.M.; Van Berckelaer-Onnes, I.; Hennekam, R.C.M.; (2005) Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. Journal of Medical Genetics , 43 (7) pp. 568-575. 10.1136/jmg.2005.038240.


Cameron, N.; Preece, M.A.; Cole, T.J.; (2005) Catch-up growth or regression to the mean? Recovery from stunting revisited. American Journal of Human Biology , 17 (4) pp. 412-417. 10.1002/ajhb.20408.


Gachet, Y.; Codlin, S.; Hyams, J.S.; Mole, S.E.; (2005) btn1, the schizosaccharomyces pombe homologue of the human batten disease gene CLN3, regulates vacuole homeostasis. Journal of Cell Science , 118 (23) pp. 5525-5536. 10.1242/jcs.02656.


Hammond, P.; Hutton, T.J.; Allanson, J.E.; Buxton, B.; Campbell, L.E.; Clayton-Smith, J.; Donnai, D.; ... Tassabehji, M.; + view all (2005) Discriminating power of localized three-dimensional facial morphology. The American Journal of Human Genetics , 77 (6) pp. 999-1010. 10.1086/498396.


Mills, P.B.; Surtees, R.A.H.; Champion, M.P.; Beesley, C.E.; Dalton, N.; Scambler, P.J.; Heales, S.J.R.; ... Clayton, P.T.; + view all (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Human Molecular Genetics , 14 (8) pp. 1077-1086. 10.1093/hmg/ddi120.

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