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المؤلفون: Neji Tebib, Wafa Cherif, I. Riahi, F. Ben Rhouma, Neziha Kaabachi, Sonia Abdelhak, Catherine Caillaud, M.C. Sá Miranda, H. Ben Turkia, Olga Amaral, M.F. Ben Dridi, Jalel Chemli
المصدر: Pathologie Biologie. 61:59-63
مصطلحات موضوعية: Genetics, 0303 health sciences, business.industry, Genetic counseling, Mutant, General Medicine, Disease, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, Mutation (genetic algorithm), Immunology, Genotype, Recombinant DNA, Medicine, Allele, Restriction fragment length polymorphism, business, 030217 neurology & neurosurgery, 030304 developmental biology
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المؤلفون: M.F. Ben Dridi, L. Mnif, N. Tahri, F. Turki, R. Chabchoub Ben Abdallah, N. Ben Halima, A. Mahfoud, Hatem Azzouz, A. Ben Chida, Lamia Gargouri
المصدر: Journal de Pédiatrie et de Puériculture. 25:18-21
مصطلحات موضوعية: Branched-chain organic acidurias, Methylmalonic aciduria, business.industry, Pediatrics, Perinatology and Child Health, 3-Methylcrotonylglycinuria, Medicine, business, Molecular biology
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المؤلفون: H. Ben Turkia, N. Miladi, Souad Ouesleti, Soumeya Bekri, M.F. Ben Dridi, Alain Lavoinne, A. Miled, Valéry Brunel, H. Dranguet, Pascale Saugier-Veber
المصدر: Clinica chimica acta; international journal of clinical chemistry. 412(23-24)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Tunisia, Clinical Biochemistry, Nonsense mutation, Mucopolysaccharidosis type III, Biology, medicine.disease_cause, Biochemistry, Polymerase Chain Reaction, Exon, Gene duplication, medicine, Missense mutation, Humans, skin and connective tissue diseases, Sanfilippo syndrome, Genetics, Mutation, Biochemistry (medical), nutritional and metabolic diseases, General Medicine, Mucopolysaccharidoses, medicine.disease, Molecular biology, genomic DNA, Child, Preschool
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المؤلفون: Hajer Siala, Hatem Azzouz, Neji Tebib, J.L. Dhondt, Sameh Khemir, Taieb Messaoud, Sonia Abdelhak, M.F. Ben Dridi, Neziha Kaabachi
المصدر: Pathologie-biologie. 60(6)
مصطلحات موضوعية: Genetics, Male, congenital, hereditary, and neonatal diseases and abnormalities, Tunisia, Phenylalanine hydroxylase, Base Sequence, Point mutation, Metabolic disorder, nutritional and metabolic diseases, Phenylalanine Hydroxylase, General Medicine, Disease, Exons, Biology, medicine.disease, Exon, Consanguinity, Child, Preschool, Phenylketonurias, Mutation, medicine, biology.protein, Humans, Gene, Sequence Deletion
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المؤلفون: Hatem Azzouz, Mohamed Slim Abdelmoula, Catherine Caillaud, H. Sanhaji, N. Miladi, M.F. Ben Dridi, Neziha Kaabachi, Neji Tebib, H. Ben Turkia, J. Bouguila, I. Maire
المصدر: Journal of inherited metabolic disease. 31
مصطلحات موضوعية: Fucosidosis, Male, Pediatrics, medicine.medical_specialty, Skin Neoplasms, Time Factors, Tunisia, Developmental Disabilities, Severity of Illness Index, Variable mental retardation, Child Development, Cause of Death, Genetics, Medicine, Humans, Recurrent pulmonary infections, Genetics (clinical), Psychomotor learning, business.industry, Infant, medicine.disease, Prognosis, Phenotype, Health Surveys, Angiokeratoma, Child, Preschool, Female, Nervous System Diseases, Progressive spastic quadriplegia, business, Visceromegaly
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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: Neziha Kaabachi, Alexandre Mebazaa, F Ben Nour, H. Sanhaji, H Mizouni, M.F. Ben Dridi, Fehmi Nasrallah, Riadh Jemaa, Moncef Feki, Monia Elasmi, Sameh Khemir, Neji Tebib
المصدر: Archives of Disease in Childhood. 94:647-648
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Tunisia, Adolescent, North africa, Disease, Young Adult, Intellectual Disability, Phenylketonurias, medicine, Humans, Child, Psychiatry, High rate, Newborn screening, business.industry, Incidence (epidemiology), Metabolic disorder, nutritional and metabolic diseases, Middle Aged, medicine.disease, Mental handicap, Pediatrics, Perinatology and Child Health, Female, business, Progressive mental retardation
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المؤلفون: M. Chaabouni, Abdelaziz Harbi, S. Fattoum, M. Hachicha, Souad Bousnina, Ahmed Maherzi, M.F. Ben Dridi, S. Barsaoui, A. Najjai, S. Barrak, M. Hamdi, Z. Fitouri, C. Chouchane, M. Ben Hariz, S. Ben Becher, I. Brini, N. Ben Jaballah, A. Karray, T. Sfar, R. Aouini, N. Gandoura, T. Mkaddmi, A. S. Essoussi, B. Mahjoub, Samir Boukthir, N. Gueddiche, F. Amri
المصدر: Journal of Pediatric Gastroenterology and Nutrition. 39:S164-S165
مصطلحات موضوعية: medicine.medical_specialty, Pathology, business.industry, Pediatrics, Perinatology and Child Health, Gastroenterology, medicine, business, medicine.disease, Dermatology, Cystic fibrosis
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المؤلفون: A. Karray, M. Chaabouni, H. Ben Turkia, A. Maherzi, M. Hachicha, E. Berkaoui, M.F. Ben Dridi, Abdelkarim Ayadi, T. Sfar
المصدر: Journal of Pediatric Gastroenterology and Nutrition. 39:S135
مصطلحات موضوعية: medicine.medical_specialty, Cholestasis, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Gastroenterology, medicine, medicine.disease, business
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المؤلفون: Cherine Charfeddine, Neji Tebib, M.F. Ben Dridi, S. Abdelha, Wafa Cherif, E. Berkaoui
المصدر: Journal of Pediatric Gastroenterology and Nutrition. 39:S134
مصطلحات موضوعية: High prevalence, business.industry, Pediatrics, Perinatology and Child Health, Immunology, Mutation (genetic algorithm), Gastroenterology, Medicine, business, Glycogen storage disease type Ia
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