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Results 11-20 of 39 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1998Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2Scheffer, I.; Phillips, H.; O'Brien, C.; Saling, M.; Wrennall, J.; Wallace, R.; Mulley, J.; Berkovic, 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.
2018A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at RiskRedondo, M.J.; Geyer, S.; Steck, A.K.; Sharp, S.; Wentworth, J.M.; Weedon, M.N.; Antinozzi, P.; Sosenko, J.; Atkinson, M.; Pugliese, A.; Oram, R.A.; Type 1 Diabetes TrialNet Study Group,
1998Autosomal dominant Klippel-Feil anomaly with cleft palateThompson, E.; Haan, E.; Sheffield, L.
2004Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationFreude, K.; Hoffmann, K.; Jensen, L.; Delatycki, M.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.; Ropers, H.
1998IgG subclass antibodies to glutamic acid decarboxylase and risk for progression to clinical insulin-dependent diabetesCouper, J.; Harrison, L.; Aldis, J.; Colman, P.; Honeyman, M.; Ferrante, A.
2005Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalitiesO'Donoghue, F.; Camfferman, D.; Kennedy, J.; Martin, A.; Couper, T.; Lack, L.; Lushington, K.; McEvoy, R.
2011A novel method for the nonradiological assessment of ineffective swallowingOmari, T.; Dejaeger, E.; Van Beckevoort, D.; Goeleven, A.; de Cock, P.; Hoffman, I.; Smet, M.; Davidson, G.; Tack, J.; Rommel, N.
2002National study of adverse reactions after vaccination with bacille Calmette-GuérinTurnbull, F.; McIntyre, P.; Achat, H.; Wang, H.; Stapledon, R.; Gold, M.; Burgess, M.
1997Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 geneSampson, J.; Maheshwar, M.; Aspinwall, R.; Thompson, P.; Cheadle, J.; Ravine, D.; Roy, S.; Haan, E.; Bernstein, J.; Harris, P.