Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family
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概要
- 論文の詳細を見る
- Nature Publishing Groupの論文
- 2009-09-01
著者
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ABDELHAK Sonia
Research Unit (MIGOD), Institut Pasteur de Tunis
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Nouira Sonia
Molecular Investigation Of Genetic Orphan Diseases" Research Unit Institut Pasteur De Tunis
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Chakroun Sonia
Research Unit Of Molecular Investigation Of Genetic Orphan Diseases Ur04sp03 Pasteur Institute
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OUECHTATI Farah
Molecular Investigation of Genetic Orphan Diseases Research Unit UR04/SP03, Pasteur Institute
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Ouechtati Farah
Molecular Investigation Of Genetic Orphan Diseases Research Unit Ur04/sp03 Pasteur Institute
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YAHIA Salim
Research Unit Department of Ophthalmology, Eye and Systemic Diseases, 02/UR/08-17, Faculty of Medicine
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OUECHTATI Farah
Research Unit of Molecular Investigation of Genetic Orphan Diseases, UR04SP03, Pasteur Institute
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JELLITI Bechir
Research Unit Department of Ophthalmology, Eye and Systemic Diseases, 02/UR/08-17, Faculty of Medicine
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NOUIRA Sonia
Research Unit of Molecular Investigation of Genetic Orphan Diseases, UR04SP03, Pasteur Institute
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KHAIRALLAH Moncef
Research Unit Department of Ophthalmology, Eye and Systemic Diseases, 02/UR/08-17, Faculty of Medicine
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Jelliti Bechir
Research Unit Department Of Ophthalmology Eye And Systemic Diseases 02/ur/08-17 Faculty Of Medicine
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Khairallah Moncef
Research Unit Department Of Ophthalmology Eye And Systemic Diseases 02/ur/08-17 Faculty Of Medicine
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Abdelhak Sonia
Research Unit Of Molecular Investigation Of Genetic Orphan Diseases Ur04sp03 Pasteur Institute
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Nouira Sonia
Research Unit Of Molecular Investigation Of Genetic Orphan Diseases Ur04sp03 Pasteur Institute
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Yahia Salim
Research Unit Department Of Ophthalmology Eye And Systemic Diseases 02/ur/08-17 Faculty Of Medicine
関連論文
- Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations
- Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region
- Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients
- Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations
- Clinical and genetic investigation of a large Tunisian family with complete achromatopsia : identification of a new nonsense mutation in GNAT2 gene
- Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family : exclusion of the PRPH2 gene and the 17p13 locus
- Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family