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Results 31-40 of 72 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2013Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyvan de Kamp, J.; Bratkovic, D.; Poplawski, N.
2014Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsScheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
2014Perinatal outcomes following maternal asthma and cigarette smoking during pregnancyHodyl, N.; Stark, M.; Scheil, W.; Grzeskowiak, L.; Clifton, V.
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,
2010Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseHarmatz, P.; Yu, Z.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Swiedler, S.; Hardy, K.; Berger, K.; et al.
2012The impact of intensified exercise training on insulin resistance and fitness in overweight and obese women with and without polycystic ovary syndromeHarrison, C.L.; Stepto, N.K.; Hutchison, S.K.; Teede, H.J.
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
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.
2010PHF6 mutations in T-cell acute lymphoblastic leukemiaVan Vlierberghe, P.; Palomero, T.; Khiabanian, H.; Van der Meulen, J.; Castillo, M.; Van Roy, N.; De Moerloose, B.; Philippe, J.; Gonzalez-Garcia, M.; Toribio, M.; Taghon, T.; Zuurbier, L.; Cauwelier, B.; Harrison, C.; Schwab, C.; Pisecker, M.; Strehl, S.; Langerak, A.; Gecz, J.; Sonneveld, E.; et al.
2018Asthma treatment impacts time to pregnancy: evidence from the international SCOPE studyGrzeskowiak, L.E.; Smithers, L.G.; Grieger, J.A.; Bianco-Miotto, T.; Leemaqz, S.Y.; Clifton, V.L.; Poston, L.; McCowan, L.M.; Kenny, L.C.; Myers, J.; Walker, J.J.; Norman, R.J.; Dekker, G.A.; Roberts, C.T.