Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families
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概要
- 論文の詳細を見る
- 2009-04-01
著者
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ABDELHAK Sonia
"Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tuni
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Kassar Selma
Hereditary Keratinization Disorders" Research Unit Hopital La Rabta De Tunis
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Abdelhak Sonia
Molecular Investigation Of Genetic Orphan Diseases Institut Pasteur De Tunis
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Boubaker Samir
Pathology Department Institut Pasteur De Tunis
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BCHETNIA Mbarka
"Molecular Investigation of Genetic Orphan Diseases" Research Unit, Institut Pasteur de Tunis
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CHARFEDDINE Cherine
"Molecular Investigation of Genetic Orphan Diseases" Research Unit, Institut Pasteur de Tunis
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KASSAR Selma
"Hereditary Keratinization Disorders" Research Unit, Hopital La Rabta de Tunis
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HANCHI Imen
Dermatology Department, Hopital La Rabta
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TOUNSI-GUETTITI Haifa
Pathology Department, Institut Pasteur de Tunis
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REBAI Ahmed
Bioinformatic department, Centre de Biotechnologie de Sfax
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DHAHRI-BEN OSMAN
Dermatology Department, Hopital La Rabta
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KUBISCH Christian
Institute of Human Genetics, University Hospital Cologne
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MOKNI Mourad
"Hereditary Keratinization Disorders" Research Unit, Hopital La Rabta de Tunis
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Abdelhak Sonia
Molecular Investigation Of Genetic Orphan Diseases" Research Unit (ur04/sp03) Institut Pasteur
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Rebai Ahmed
Bioinformatic Department Centre De Biotechnologie De Sfax
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Dhahri-ben Osman
Dermatology Department Hopital La Rabta
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Mokni Mourad
Service De Dermatologie Hopital La Rabta De Tunis
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Charfeddine Cherine
Molecular Investigation Of Genetic Orphan Diseases" Research Unit Institut Pasteur De Tunis
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Hanchi Imen
Dermatology Department Hopital La Rabta
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Abdelhak Sonia
Molecular Investigation Of Genetic Orphan Diseases" Research Unit (ur04/sp03) Institut Pasteur
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Bchetnia Mbarka
Molecular Investigation Of Genetic Orphan Diseases" Research Unit Institut Pasteur De Tunis
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Kubisch Christian
Institute Of Human Genetics University Hospital Cologne
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Tounsi-guettiti Haifa
Pathology Department Institut Pasteur De Tunis
関連論文
- 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, 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
- 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