De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, J. M., Friedman, J., Faivre, L., Lin, H. J., Thauvin-Robinet, C., Vitobello, A.
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Quality of life after paediatric ischaemic stroke
Kornfeld, Salome, Studer, Martina, Winkelbeiner, Stephanie, Regényi, Mária, Boltshauser, Eugen, Steinlin, Maja, Mori, A Capone, Datta, A, Fluss, J, Hackenberg, A, Keller, E, Maier, O, Marcoz, J‐P, Poloni, C, Ramelli, G‐P, Schmid, R, Schmitt‐Mechelke, T
Published in Developmental medicine and child neurology (01.01.2017)
Published in Developmental medicine and child neurology (01.01.2017)
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Prediction of ROP Treatment and Evaluation of Screening Criteria in VLBW Infants–a Population Based Analysis
Gerull, Roland, Brauer, Viviane, Bassler, Dirk, Laubscher, Bernard, Pfister, Riccardo E, Nelle, Mathias, Müller, Beatrice, Roth-Kleiner, Matthias, Gerth-Kahlert, Christina, Adams, Mark
Published in Pediatric research (01.11.2018)
Published in Pediatric research (01.11.2018)
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The first three years of the Swiss Neuropaediatric Stroke Registry (SNPSR): a population-based study of incidence, symptoms and risk factors
Steinlin, M, Pfister, I, Pavlovic, J, Everts, R, Boltshauser, E, Capone Mori, A, Gubser Mercati, D, Hänggeli, C-A, Keller, E, Luetschg, J, Marcoz, J, Ramelli, G-P, Roulet Perez, E, Schmitt-Mechelke, T, Weissert, M
Published in Neuropediatrics (01.04.2005)
Published in Neuropediatrics (01.04.2005)
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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
Wolf, N I, Harting, I, Boltshauser, E, Wiegand, G, Koch, M J, Schmitt-Mechelke, T, Martin, E, Zschocke, J, Uhlenberg, B, Hoffmann, G F, Weber, L, Ebinger, F, Rating, D
Published in Neurology (26.04.2005)
Published in Neurology (26.04.2005)
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Neuropsychological problems after paediatric stroke: two year follow-up of Swiss children
Pavlovic, J, Kaufmann, F, Boltshauser, E, Capone Mori, A, Gubser Mercati, D, Haenggeli, C-A, Keller, E, Lütschg, J, Marcoz, J-P, Ramelli, G-P, Roulet Perez, E, Schmitt-Mechelke, T, Weissert, M, Steinlin, M
Published in Neuropediatrics (01.02.2006)
Published in Neuropediatrics (01.02.2006)
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“Gourmand syndrome” in a child with pharmacoresistant epilepsy
Kurian, M, Schmitt-Mechelke, T, Korff, C, Delavelle, J, Landis, T, Seeck, M
Published in Epilepsy & behavior (01.08.2008)
Published in Epilepsy & behavior (01.08.2008)
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Dexamethasone in refractory seizures of premature infants
Boor, R, Schmitt-Mechelke, T, Stopfkuchen, H, Reitter, B
Published in Acta pædiatrica (Oslo) (01.01.1993)
Published in Acta pædiatrica (Oslo) (01.01.1993)
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Impact of sepsis on neurodevelopmental outcome in a Swiss National Cohort of extremely premature infants
Schlapbach, Luregn J, Aebischer, Maude, Adams, Mark, Natalucci, Giancarlo, Bonhoeffer, Jan, Latzin, Philipp, Nelle, Mathias, Bucher, Hans Ulrich, Latal, Beatrice
Published in Pediatrics (Evanston) (01.08.2011)
Published in Pediatrics (Evanston) (01.08.2011)
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Incidence of retinopathy of prematurity (ROP) and ROP treatment in Switzerland 2006–2015: a population-based analysis
Gerull, Roland, Brauer, Viviane, Bassler, Dirk, Laubscher, Bernard, Pfister, Riccardo E, Nelle, Mathias, Müller, Béatrice, Gerth-Kahlert, Christina, Adams, Mark
Published in Archives of disease in childhood. Fetal and neonatal edition (01.07.2018)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.07.2018)
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Health related quality of life and manual ability 5 years after neonatal ischemic stroke
Caspar-Teuscher, Miriam, Studer, Martina, Regényi, Maria, Steinlin, Maja, Grunt, Sebastian, Bigi, Sandra, Mori, Andrea Capone, Datta, Alexandre, Fluss, Joel, Hackenberg, Annette, Keller, Elmar, Maier, Oliver, Mercati, Danielle, Marcoz, Jean-Pierre, Poloni, Claudia, Ramelli, Gian-Paolo, Schmid, R., Schmitt-Mechelke, T.
Published in European journal of paediatric neurology (01.09.2019)
Published in European journal of paediatric neurology (01.09.2019)
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Association between perinatal interventional activity and 2-year outcome of Swiss extremely preterm born infants: a population-based cohort study
Adams, Mark, Berger, Thomas M, Borradori-Tolsa, Cristina, Bickle-Graz, Myriam, Grunt, Sebastian, Gerull, Roland, Bassler, Dirk, Natalucci, Giancarlo
Published in BMJ open (15.03.2019)
Published in BMJ open (15.03.2019)
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Neurodevelopmental outcome at early school age in a Swiss national cohort of very preterm children
Pittet-Metrailler, Marie P, Mürner-Lavanchy, Ines, Adams, Mark, Bickle-Graz, Myriam, Pfister, Riccardo E, Natalucci, Giancarlo, Grunt, Sebastian, Borradori Tolsa, Cristina, Swiss National Network And Follow-Up Group
Published in Swiss medical weekly (02.06.2019)
Published in Swiss medical weekly (02.06.2019)
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Congenital pulmonary lymphangiectasia
Huber, A, Schranz, D, Blaha, I, Schmitt-Mechelke, T, Schumacher, R
Published in Pediatric pulmonology (1991)
Published in Pediatric pulmonology (1991)
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