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 TitleAuthors / EditorsDate
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Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency Lebon, S; Chol, M; Benit, P; Mugnier, C; ... Munnich, A 2003
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Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria Opladen, Thomas; Zurflüh, Marcel; Kern, Ilse; Kierat, Lucja; ... Blau, Nenad 2005
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Epigénétique et cancer Kern, Ilse; Rossier, Michel; Chappuis, Pierre 2007
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Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient rimella-le huu, a; Henry, H; Kern, Ilse; Hanquinet, Sylviane; ... Ballhausen, D 2008
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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency Brun, L.; Ngu, L. H.; Keng, W. T.; Ch'ng, G. S.; ... Blau, N. 2010
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Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome Schaller, André; Hahn, Dagmar; Jackson, Christopher B; Kern, Ilse; ... Nuoffer, Jean-Marc 2011
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Kern, Ilse 2011
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Nouvelles thérapies pour les maladies osseuses de l'enfant Ballhausen, Diana; Dépraz, Nuria Garcia; Kern, Ilse; Unger, Sheila; Bonafé, Luisa 2012
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study Keil, Stefanie; Anjema, Karen; van Spronsen, Francjan J; Lambruschini, Nilo; ... Blau, Nenad 2013
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Embryonic stem cell-based screen for small molecules: cluster analysis reveals four response patterns in developing neural cells Kern, Ilse; Xu, R; Julien, Stéphanie; Suter, D; ... Krause, Karl-Heinz 2013
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Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report Porri, Stéphanie; Fluss, Joel Victor; Plecko, Barbara; Paschke, Eduard; ... Kern, Ilse 2014
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Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy Huemer, Martina; Scholl-Bürgi, Sabine; Hadaya, Karine; Kern, Ilse; ... Karall, Daniela 2014
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Vitamin D deficiency: a forgotten treatable cause of motor delay and proximal myopathy Fluss, Joel Victor; Kern, Ilse; De Coulon, Geraldo; Gonzalez, Elsa; Chehade, Hassib 2014
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Erreurs innées du métabolisme: transition enfant-adulte Tran, Christel; Barbey, Frederic; Pitteloud, Nelly; Philippe, Jacques; ... Bonafé, L 2015
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Acute cortical deafness in a child with MELAS syndrome Pittet, Marie-Pascale; Idan, Roni B; Kern, Ilse; Guinand, Nils; ... Fluss, Joel Victor 2016
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L'interniste face aux maladies rares : quand y penser ? L'exemple des maladies mitochondriales Tran, Christel; Serratrice, Jacques; Nuoffer, Jean-Marc; Schaller, A; ... Ballhausen, Diana 2017
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SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stephanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian 2017
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Fingerprinting of neurotoxic compounds using a mouse embryonic stem cell dual luminescence reporter assay Colaianna, Marilena; Ilmjarv, Sten; Peterson, Hedi; Kern, Ilse; ... Krause, Karl-Heinz 2017
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Parkinsonism is a Phenotypical Signature of Amyloidopathy in Patients with Gait Disorders Allali, Gilles; Kern, Ilse; Laidet, Magali; Armand, Stéphane; Assal, Frédéric 2018
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Prognostic value of elevated lipoprotein(a) in patients with acute coronary syndromes Gencer, Baris; Rigamonti, Fabio; Nanchen, David; Vuilleumier, Nicolas; ... Mach, François 2019