Universitäts-Kinderspital Zürich

Hospital


Location: Zürich, Switzerland (CH) CH

ISNI: 0000000107264330

ROR: https://ror.org/035vb3h42

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations (2015) Giarrana ML, Joset P, Sticht H, Robb S, Steindl K, Rauch A, Klein A Journal article HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders (2014) Reuter M, Sass JO, Leis T, Koehler J, Mayr JA, Feichtinger RG, Rauh M, et al. Journal article Triggers and treatment of anaphylaxis: an analysis of 4,000 cases from Germany, Austria and Switzerland (2014) Worm M, Eckermann O, Doelle S, Aberer W, Beyer K, Hawranek T, Hompes S, et al. Journal article Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene (2014) Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, Joset P, et al. Journal article The clinical significance of small copy number variants in neurodevelopmental disorders (2014) Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, et al. Journal article
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