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المؤلفون: Monica Pascucci, W. Daoud, Daniele Castiglia, F. Cherif, Giovanna Floriddia, Selma Kassar, Amel Ben Osman-Dhahri, Houyem Ouragini, Sonia Abdelhak, Samir Boubaker
المصدر: Journal of Dermatological Science. 54:114-120
مصطلحات موضوعية: Adult, Male, Collagen Type VII, Tunisia, Adolescent, Genotype, Dermatology, Consanguinity, Biochemistry, Young Adult, Microscopy, Electron, Transmission, Anchoring fibrils, Humans, Medicine, Child, Molecular Biology, Aged, Skin, Genetics, business.industry, Genetic heterogeneity, Haplotype, Epidermolysis bullosa dystrophica, Infant, Exons, Middle Aged, medicine.disease, Penetrance, Epidermolysis Bullosa Dystrophica, Pedigree, Haplotypes, Child, Preschool, Mutation, Mutation (genetic algorithm), Female, business
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المؤلفون: Helmi Mardassi, Selma Kassar, Nawel Ben Abdeljelil, Khaled Miled, Samir Boubaker, Abdeljelil Ghram, Neila Khabouchi
المصدر: Virology Journal
مصطلحات موضوعية: animal structures, Infectious clone, viruses, In vivo reverse genetics, Mutant, Amino Acid Motifs, Molecular Sequence Data, Mutation, Missense, Mutagenesis (molecular biology technique), Chick Embryo, Biology, Virus Replication, Tropism, Infectious bursal disease virus, Virus, Infectious bursal disease, Virology, medicine, Animals, Amino Acid Sequence, Poultry Diseases, vvIBDV, Virulence, Research, Attenuation, medicine.disease, Birnaviridae Infections, Viral Tropism, Infectious Diseases, Capsid, Viral replication, Amino Acid Substitution, Mutagenesis, Tissue tropism, Capsid Proteins, Chickens, Sequence Alignment
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المؤلفون: Mbarka Bchetnia, Selma Kassar, A. Merdassi, Fatma Mgaieth, Mourad Mokni, Amel Dhahri-Ben Osman, Hamouda Boussen, Sonia Abdelhak, M.S. Boubaker, Cherine Charfeddine, Leila Elmatri, I. Chouchene, Farah Ouechtati
المصدر: Journal of Medical Case Reports
Journal of Medical Case Reports, Vol 4, Iss 1, p 108 (2010)مصطلحات موضوعية: Proband, Medicine(all), medicine.medical_specialty, Mutation, genetic structures, business.industry, lcsh:R, Hyperkeratosis, lcsh:Medicine, Single-nucleotide polymorphism, General Medicine, medicine.disease, medicine.disease_cause, Dermatology, eye diseases, Palmoplantar keratoderma, Case report, Congenital cataracts, medicine, Missense mutation, sense organs, Posterior subcapsular cataract, business
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المؤلفون: Sonia Abdelhak, H. Zribi, Mbarka Bchetnia, A. Ben Osman, Selma Kassar, Cherine Charfeddine, Samir Boubaker, Mourad Mokni, Haifa Tounsi-Kettiti, Emna Jerbi
المصدر: Journal of the European Academy of Dermatology and Venereology : JEADV. 23(10)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Tunisia, business.industry, Pemphigus vulgaris, Genodermatosis, Dermatology, Disease, medicine.disease, Penetrance, Severity of Illness Index, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Infectious Diseases, ATP2A2, Clinical heterogeneity, Mutation, medicine, Darier's disease, Humans, Histopathology, Female, business, Darier Disease
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المؤلفون: Samir Boubaker, Amel Dhahri-Ben Osman, Mejda Cheour, Selma Kassar, Mbarka Bchetnia, Haifa Tounsi Guettiti, Cherine Charfeddine, Mourad Mokni, Hela Zribi, Sonia Abdelhak, Feten Ellouze
المصدر: Archives of Dermatology. 145
مصطلحات موضوعية: Male, Heterozygote, Tunisia, DNA Mutational Analysis, Population, Mutation, Missense, Calcium-Transporting ATPases, Dermatology, Sampling Studies, Darier Disease, ATP2A2, Humans, Missense mutation, Medicine, Genetic Predisposition to Disease, Keratosis follicularis, education, Developing Countries, Genetics, education.field_of_study, business.industry, Incidence, Haplotype, General Medicine, Pedigree, Phenotype, Case-Control Studies, Microsatellite, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768836e2c7cffcf0c1e416112cb4495e
https://doi.org/10.1001/archdermatol.2009.52 -
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المؤلفون: Sabrine Ahlem Ben Brick, W. Daoud, Monica Pascucci, Nabiha Mahdhaoui, Daniele Castiglia, Houyem Ouragini, Kamel Monastiri, Amel Ben Osman-Dhahri, Giovanna Floriddia, Mohammed Ridha Kamoun, Hassen Seboui, F. Cherif, Sonia Nouira, Selma Kassar, Rym Kefi, Samir Boubaker, Ridha Mrad, Mohamed Denguezli, Mourad Mokni, Sonia Abdelhak
المصدر: Journal of dermatological science. 57(2)
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Tunisia, Specific mutation, business.industry, Ethnic group, Dermatology, Collagen Type VIII, Biochemistry, World wide, Epidermolysis Bullosa Dystrophica, Dystrophic epidermolysis bullosa, Phenotype, Recessive dystrophic epidermolysis bullosa, Mutation, medicine, Humans, Recurrent mutation, business, Molecular Biology
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المؤلفون: Doris Cassio, Haifa Tounsi-Kettiti, Mourad Mokni, Mbarka Bchetnia, Amel Ben Osman, Emna Jerbi, Hela Zribi, Cherine Charfeddine, Sonia Abdelhak, Samir Boubaker, Selma Kassar
المساهمون: Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), Hôpital La Rabta [Tunis], Service de dermatologie, Signalisation calcique et interactions cellulaires dans le foie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11)
المصدر: Journal of Cutaneous Pathology
Journal of Cutaneous Pathology, Wiley, 2008, 35 (7), pp.635-640. ⟨10.1111/j.1600-0560.2007.00880.x⟩مصطلحات موضوعية: Pathology, Cytoplasm, MESH: Protein Precursors, [SDV]Life Sciences [q-bio], 030207 dermatology & venereal diseases, 0302 clinical medicine, MESH: Acantholysis, Darier Disease, Keratoderma, Palmoplantar, Keratin, MESH: Microscopy, Confocal, Fluorescent Antibody Technique, Indirect, chemistry.chemical_classification, 0303 health sciences, Microscopy, Confocal, integumentary system, Acantholysis, Immunohistochemistry, 3. Good health, MESH: Pemphigus, Benign Familial, medicine.medical_specialty, Histology, Pemphigus, Benign Familial, Dermatology, Biology, MESH: Keratoderma, Palmoplantar, Pathology and Forensic Medicine, 03 medical and health sciences, ATP2A2, MESH: Analysis of Variance, Darier's disease, medicine, Humans, MESH: Fluorescent Antibody Technique, Indirect, Protein Precursors, Involucrin, 030304 developmental biology, Analysis of Variance, MESH: Humans, MESH: Cytoplasm, Cell Membrane, MESH: Immunohistochemistry, medicine.disease, MESH: Darier Disease, chemistry, Epidermis, MESH: Epidermis, Immunostaining, MESH: Cell Membrane
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المؤلفون: Mourad Mokni, Samir Boubaker, Cherine Charfeddine, Amel Ben Osman, Ahmed Rebai, Selma Kassar, Chiraz Bouchlaka, Sonia Abdelhak, Hela Zribi
المساهمون: Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), Service de dermatologie, Hôpital La Rabta [Tunis], Study of Hereditary Keratinization Disorders Research Unit, Unit of Bioinformatics, Centre de Biotechnologie de Sfax (CBS), This work was supported by the Tunisian Ministry of Scientific and Technological Research and Development of competencies (Research Unit on ‘‘Molecular Investigation of Genetic Orphan Disorders’’ UR 26/04 and Research Unit on ‘‘Study of Hereditary Keratinization Disorders’’ UR 24/04).
المصدر: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2006, 51 (10), pp.841-845. ⟨10.1007/s10038-006-0002-8⟩مصطلحات موضوعية: Adult, Genetic Markers, Male, Tunisia, Genetic Linkage, [SDV]Life Sciences [q-bio], Hyperkeratosis, Population, Genes, Recessive, Consanguinity, Biology, 030207 dermatology & venereal diseases, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, Genetic linkage, Keratoderma, Palmoplantar, ARS (component B), Genetics, medicine, Antigens, Ly, Humans, Family, linkage analysis, education, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, genetic exclusion, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Genetic heterogeneity, Mediterranean Region, palmoplantar keratoderma, medicine.disease, Urokinase-Type Plasminogen Activator, 3. Good health, Pedigree, Palmoplantar keratoderma, Phenotype, Genetic marker, Female, Mal de Meleda
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المؤلفون: A. Laadjimi, Cherine Charfeddine, Sonia Abdelhak, Neji Tebib, M.F. Ben Dridi, M. Keirallah, M. N. Guediche, M. Nilges, Kamel Monastiri, Mohamed Ridha Kamoun, Samir Boubaker, A. Ben Osman, Selma Kassar, Mourad Mokni, Naziha Kaabachi, O. Perin
المساهمون: Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), CHU Fattouma Bourguiba [Monastir] (HFB), Hôpital La Rabta [Tunis], Bioinformatique structurale - Structural Bioinformatics, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Hôpital Charles Nicolle [Tunis], This work was supported by the Tunisian Ministry of Scientific and Technological Research and, Development of Competencies (Research Unit on 'Molecular Investigation of Genetic Orphan Diseases' UR 26/04 and Research Unit on 'Study of Hereditary Keratinization Disorders' UR 24/04)., We thank the patients and family members., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2006, 88 (2), pp.184--91. ⟨10.1016/j.ymgme.2006.02.006⟩
Molecular Genetics and Metabolism, 2006, 88 (2), pp.184--91. ⟨10.1016/j.ymgme.2006.02.006⟩مصطلحات موضوعية: Male, Models, Molecular, Clinical heterogeneity, Endocrinology, Diabetes and Metabolism, Mutant, medicine.disease_cause, Biochemistry, Consanguinity, 030207 dermatology & venereal diseases, Exon, 0302 clinical medicine, Endocrinology, Tyrosine aminotransferase, Pregnancy, Structural models, Haplotype analysis, Missense mutation, Child, Tyrosinemia type II, Genetics, 0303 health sciences, Mutation, Tyrosinemias, Phenotype, Pedigree, 3. Good health, Child, Preschool, Female, Amino acidemias, Adult, Tunisia, Molecular Sequence Data, Mutation, Missense, Biology, Mutation screening, 03 medical and health sciences, medicine, Humans, Amino Acid Sequence, Molecular Biology, Tyrosine Transaminase, 030304 developmental biology, medicine.disease, Molecular biology, Haplotypes, Tyrosine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Microsatellite Repeats
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المؤلفون: Selma Kassar, Monia Kacem, Moncef Mokni, A. Ben Osman, Haifa Tounsi-Kettiti, Samir Boubaker, Sonia Abdelhak
المصدر: Annales de Pathologie. 31:S159-S160
مصطلحات موضوعية: Pathology and Forensic Medicine
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