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Steffens, Britta; Koch, Gilbert; Gächter, Pascal; Claude, Fabien; Gotta, Verena; Bachmann, Freya; Schropp, Johannes; Janner, Marco; l'Allemand, Dagmar; Konrad, Daniel; Welzel, Tatjana; Szinnai, Gabor; Pfister, Marc (2023). Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves' disease. Frontiers in medicine, 10, p. 1099470. Frontiers 10.3389/fmed.2023.1099470
Bösch, Florin; Landolt, Markus A; Baumgartner, Matthias R; Fernandez, Susana; Forny, Patrick; Gautschi, Matthias; Grünert, Sarah C; Häberle, Johannes; Horvath, Carolina; Karall, Daniela; Lampis, Danila; Rohrbach, Marianne; Scholl-Bürgi, Sabine; Szinnai, Gabor; Huemer, Martina (2022). Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism. Molecular genetics and metabolism reports, 31, p. 100876. Elsevier 10.1016/j.ymgmr.2022.100876
Koch, Gilbert; Steffens, Britta; Leroux, Stephanie; Gotta, Verena; Schropp, Johannes; Gächter, Pascal; Bachmann, Freya; Welzel, Tatjana; Janner, Marco; L'Allemand, Dagmar; Konrad, Daniel; Szinnai, Gabor; Pfister, Marc (2021). Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study. Journal of pharmacokinetics and pharmacodynamics, 48(5), pp. 711-723. Springer 10.1007/s10928-021-09765-w
Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374
Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; ... (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European journal of endocrinology, 178(4), pp. 377-388. BioScientifica Ltd. 10.1530/EJE-17-0568
Diesch, Tamara; von der Weid, Nicolas Xavier; Szinnai, Gabor; Schaedelin, Sabine; De Geyter, Christian; Rovó, Alicia (2016). Fertility preservation in pediatric and adolescent cancer patients in Switzerland: A qualitative cross-sectional survey. Cancer epidemiology, biomarkers & prevention, 44, pp. 141-146. American Association for Cancer Research AACR 10.1016/j.canep.2016.08.013
