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Results 21-30 of 72 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2013Single-nucleotide polymorphism associations with preterm delivery: a case-control replication study and meta-analysisO'Callaghan, M.; MacLennan, A.; McMichael, G.; Haan, E.; Dekker, G.
2008Association between apolipoprotein E genotype and cerebral palsy is not confirmed in a caucasian populationMcMichael, G.; Gibson, C.; Goldwater, P.; Haan, E.; Priest, K.; Dekker, G.; MacLennan, A.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
1997Mutation detection in FGFR2 craniosynostosis syndromesHollway, G.; Suthers, G.; Haan, E.; Thompson, E.; David, D.; Gecz, J.; Mulley, J.
2001Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndromeKelberman, D.; Tyson, J.; Chandler, D.; McInerney, A.; Slee, J.; Albert, D.; Aymat, A.; Botma, M.; Calvert, M.; Goldblatt, J.; Haan, E.; Laing, N.; Lim, J.; Malcolm, S.; Singer, S.; Winter, R.; Bitner-Glindzicz, M.
1999Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cellsHussey, N.; Donggui, H.; Froiland, D.; Hussey, D.; Haan, E.; Matthews, C.; Craig, J.
1998Autosomal dominant Klippel-Feil anomaly with cleft palateThompson, E.; Haan, E.; Sheffield, L.
1998SHORT syndrome: distinctive radiographic featuresHaan, E.; Morris, L.
2000Breast cancer screening uptake in women at increased risk of developing hereditary breast cancerMeiser, B.; Butow, P.; Barratt, A.; Friedlander, M.; Kirk, J.; Gaff, C.; Haan, E.; Aittomaki, K.; Tucker, K.