Abdelhak Sonia | Molecular Investigation Of Genetic Orphan Diseases Research Unit Ur04/sp03 Pasteur Institute
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- 同名の論文著者
- Molecular Investigation Of Genetic Orphan Diseases Research Unit Ur04/sp03 Pasteur Instituteの論文著者
Molecular Investigation Of Genetic Orphan Diseases Research Unit Ur04/sp03 Pasteur Institute | 論文
- Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family
- 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
- Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III : This article has been corrected since advance Online Publication, and a corrigendum is also printed in this issue
- Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family : exclusion of the PRPH2 gene and the 17p13 locus