Abdelhak Sonia | Molecular Investigation Of Genetic Orphan Diseases" Research Unit Institut Pasteur De Tunis
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Molecular Investigation Of Genetic Orphan Diseases" Research Unit Institut Pasteur De Tunis | 論文
- Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations
- Clinical and genetic investigation of a large Tunisian family with complete achromatopsia : identification of a new nonsense mutation in GNAT2 gene
- Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family
- Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families
- Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region