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H-BRS Bibliography
yes (2)
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Departments, institutes and facilities
Fachbereich Angewandte Naturwissenschaften
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Institut für funktionale Gen-Analytik (IFGA)
(2)
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Article
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Year of publication
2021
(1)
2016
(1)
Language
English
(2)
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Canavan disease (2)
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Severe retinal degeneration in a patient with Canavan disease
(2021)
Benson, Matthew D.
;
Plemel, David J. A.
;
Freund, Paul R.
;
Lewis, James R.
;
Sass, Jörn Oliver
;
Bähr, Luzy
;
Gemperle-Britschgi, Corinne
;
Ferreira, Patrick
;
MacDonald, Ian M.
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia
(2016)
Sass, Jörn Oliver
;
Vaithilingam, Jathana
;
Gemperle-Britschgi, Corinne
;
Delnooz, Cathérine C. S.
;
Kluijtmans, Leo A. J.
;
van de Warrenburg, Bart P. C.
;
Wevers, Ron A.
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