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Screening of three Mediterranean phenylketonuria mutations in Tunisian familiesJournal of Genetics, 2012, 91 (1), pp.91-94
Journal articles
hal-01358543v1
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High frequency of W1327X mutation in glycogen storage disease type III patients from central TunisiaAnnales de Biologie Clinique, 2012, 70 (6), pp.648-650. ⟨10.1684/abc.2012.0766⟩
Journal articles
pasteur-01375145v1
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Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability SyndromeAmerican Journal of Human Genetics, 2012, 91 (6), pp.998-1010. ⟨10.1016/j.ajhg.2012.10.011⟩
Journal articles
pasteur-01375146v1
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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Orphanet Journal of Rare Diseases, 2012, 7, pp.52. ⟨10.1186/1750-1172-7-52⟩
Journal articles
pasteur-00859423v1
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