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Browsing by Author Achouitar, S.

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Full TextIssue DateTitleAuthor(s)
2011Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiencyAchouitar, S.; Goldstein, J.L.; Mohamed, M.; Austin, S.; Boyette, K., et al
2011Nijmegen paediatric CDG rating scale: a novel tool to assess disease progressionAchouitar, S.; Mohamed, M.; Gardeitchik, T.; Wortmann, S.B.; Sykut-Cegielska, J., et al
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