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Congenital Myasthenic Syndromes: Achievements and Limitations of Phenotype-Guided Gene-After-Gene Sequencing in Diagnostic Practice: A Study of 680 Patients

Lookup NU author(s): Dr Amina Chaouch, Dr Juliane Mueller, Professor Hanns Lochmuller

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Author(s): Abicht A, Dusl M, Gallenmuller C, Guergueltcheva V, Schara U, Della Marina A, Wibbeler E, Almaras S, Mihaylova V, von der Hagen M, Huebner A, Chaouch A, Muller JS, Lochmuller H

Publication type: Article

Journal: Human Mutation

Year: 2012

Volume: 33

Issue: 10

Pages: 1474-1484

Print publication date: 27/06/2012

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/humu.22130

DOI: 10.1002/humu.22130


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