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PreviewIssue DateTitleAuthor(s)
2018Maternal smoking during pregnancy and offspring overweight: is there a dose-response relationship? An individual patient data meta-analysisAlbers, L.; Sobotzki, C.; Kuß, O.; Ajslev, T.; Batista, R.; Bettiol, H.; Brabin, B.; Buka, S.; Cardoso, V.; Clifton, V.; Devereux, G.; Gilman, S.; Grzeskowiak, L.; Heinrich, J.; Hummel, S.; Jacobsen, G.; Jones, G.; Koshy, G.; Morgen, C.; Oken, E.; et al.
2006Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessmentStadler, S.; Polanetz, R.; Maier, E.; Heidenreich, S.; Niederer, B.; Mayerhofer, P.; Lagler, F.; Koch, H.; Santer, R.; Fletcher, J.; Ranieri, E.; Das, A.; Spiekerkotter, U.; Schwab, K.; Potzsch, S.; Marquardt, I.; Hennermann, J.; Knerr, I.; Mercimek-Mahmutoglu, S.; Kohlschmidt, N.; et al.
2006Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiencyKnisely, A.; Strautnieks, S.; Meier, Y.; Stieger, B.; Byrne, J.; Portmann, B.; Bull, L.; Pawlikowska, L.; Bilezikci, B.; Ozcay, F.; Laszlo, A.; Tiszlavicz, L.; Moore, L.; Raftos, J.; Arnell, H.; Fischler, B.; Nemeth, A.; Papadogiannakis, N.; Cielecka-Kuszyk, J.; Jankowska, I.; et al.
2015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderKumar, R.; Corbett, M.; Smith, N.; Jolly, L.; Tan, C.; Keating, D.; Duffield, M.; Utsumi, T.; Moriya, K.; Smith, K.; Hoischen, A.; Abbott, K.; Harbord, M.; Compton, A.; Woenig, J.; Arts, P.; Kwint, M.; Wieskamp, N.; Gijsen, S.; Veltman, J.; et al.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
2017Docosahexaenoic acid and bronchopulmonary dysplasia in preterm infantsCollins, C.; Makrides, M.; McPhee, A.; Sullivan, T.; Davis, P.; Thio, M.; Simmer, K.; Rajadurai, V.; Travadi, J.; Berry, M.; Liley, H.; Opie, G.; Tan, K.; Lui, K.; Morris, S.; Stack, J.; Stark, M.; Chua, M.; Jayagobi, P.; Holberton, J.; et al.
2018Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderFrints, S.G.M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; E Hickey, S.; Kammoun, M.; Gripp, K.W.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B.J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D.C.; et al.