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

  1. Lookup NU author(s)
  2. Dr Amina Chaouch
  3. Dr Juliane Mueller
  4. Professor Hanns Lochmuller
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
JournalHuman Mutation
Year2012
Volume33
Issue10
Pages1474-1484
ISSN (print)1059-7794
ISSN (electronic)1098-1004
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PublisherJohn Wiley & Sons, Inc.
URLhttp://dx.doi.org/10.1002/humu.22130
DOI10.1002/humu.22130
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