المؤلفون: N. Zouari, H. Ajmi, Saoussen Abroug, Najoua Kahloul, Sameh Mabrouk, Sameh Ghorbel, Jalel Chemli, Lamia Boughammoura, Kais Mansour, Houssin Mejaouel, Olfa Ezzi

المصدر: Annales de Cardiologie et d'Angéiologie. 71:86-89

مصطلحات موضوعية: Univariate analysis, Pediatrics, medicine.medical_specialty, Multivariate analysis, Thrombocytosis, business.industry, Anemia, medicine.disease, medicine.anatomical_structure, Aneurysm, medicine, Etiology, Cardiology and Cardiovascular Medicine, business, Systemic vasculitis, Artery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a3900efcdfd9a34b322da5ce4815584bTest
https://doi.org/10.1016/j.ancard.2021.10.011Test

المؤلفون: Houda, Ajmi, Sameh, Ghorbel, Olfa, Ezzi, Sameh, Mabrouk, Kais, Mansour, Najoua, Kahloul, Jalel, Chemli, Noura, Zouari, Houssin, Mejaouel, Lamia, Boughammoura, Saoussen, Abroug

المصدر: Annales de cardiologie et d'angeiologie. 71(2)

مصطلحات موضوعية: Male, Adolescent, Risk Factors, Coronary Aneurysm, Humans, Infant, Female, Coronary Artery Disease, Mucocutaneous Lymph Node Syndrome, Child, Coronary Vessels, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b4cbe2c8ecc8e7ba9efb217d28379056Test
https://pubmed.ncbi.nlm.nih.gov/34753596Test

المؤلفون: Najoua Kahloul, Céline Barlier, Viviana Granados, Saloua Jemni-Yacoub, Abderrahim Khelif, Sandrine Laradi, Jocelyne Fagan, Tahar Chakroun, Olivier Garraud, Sabeur Hammami, Chaker Aloui, Fabrice Cognasse, Latifa Chkioua

المصدر: Blood Coagulation & Fibrinolysis. 29:689-696

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Tunisia, Platelet Function Tests, Nonsense mutation, Population, Integrin alpha2, Prenatal diagnosis, Consanguinity, 030204 cardiovascular system & hematology, 03 medical and health sciences, Exon, 0302 clinical medicine, hemic and lymphatic diseases, Humans, Medicine, Child, education, Chromatography, High Pressure Liquid, Genetics, education.field_of_study, business.industry, Integrin beta3, Sequence Analysis, DNA, Hematology, General Medicine, Stop codon, 030104 developmental biology, Molecular Diagnostic Techniques, Codon, Nonsense, Mutation (genetic algorithm), Female, business, Thrombasthenia, ITGA2B Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9bace58f90e819f73bd170931ab5d3fTest
https://doi.org/10.1097/mbc.0000000000000779Test

المؤلفون: Smail Hadj-Rabia, Marc Vasse, Christine Bodemer, Bert Callewaert, Sofie Symoens, Philippe Khau Van Kien, Aicha Salhi, Helen Cox, Aude Beyens, Najoua Kahloul, Elif Yilmaz Gulec, Ester Moreno-Artero, Gonul Ogur, Annie Harroche, Alper Gezdirici

المساهمون: Ondokuz Mayıs Üniversitesi

المصدر: Experimental dermatologyREFERENCES. 28(10)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Glycosylation, Dermatology, Hemorrhagic Disorders, Biochemistry, Cataract, Cutis Laxa, Pathogenesis, 030207 dermatology & venereal diseases, 03 medical and health sciences, Consanguinity, Young Adult, 0302 clinical medicine, elastic fiber disarray, von Willebrand disease type 2, Von Willebrand disease, Medicine, Humans, Child, pulmonary emphysema, Molecular Biology, Aged, Skin, Emphysema, Adult patients, business.industry, Elastic fibre, medicine.disease, Elastic Tissue, Phenotype, Wrinkly skin, Elastic fibres, Proton-Translocating ATPases, 030104 developmental biology, Codon, Nonsense, Child, Preschool, Face, Female, RNA Splice Sites, Agenesis of Corpus Callosum, business, Protein Processing, Post-Translational, management, Cutis laxa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c8deb4d323dd92d57796d8d2e0ba120Test
https://pubmed.ncbi.nlm.nih.gov/29952037Test

المؤلفون: Paul-Martin Holterhus, Ilhem Charfeddine, Ali Saad, Ons Mamaï, Felix G. Riepe, Abdelbasset Amara, Moez Gribaa, Alexandra Kulle, Fathi Amri, Amira Mili, Najoua Kahloul, Labiba Adala

المصدر: General and Comparative Endocrinology. 175:514-518

مصطلحات موضوعية: Male, Aldosterone synthase, medicine.medical_specialty, Tunisia, Molecular Sequence Data, Mutation, Missense, Biology, Frameshift mutation, Endocrinology, Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency, Internal medicine, medicine, Humans, Missense mutation, Congenital adrenal hyperplasia, Amino Acid Sequence, Steroid 11-beta-hydroxylase, Adrenal Hyperplasia, Congenital, Virilization, 21-Hydroxylase, medicine.disease, Virilism, Pedigree, Mutagenesis, Insertional, Child, Preschool, Hypertension, biology.protein, Steroid 11-beta-Hydroxylase, Female, Animal Science and Zoology, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc82f3c54a90ea6b9dd701f8577c7a8fTest
https://doi.org/10.1016/j.ygcen.2011.12.017Test

المؤلفون: Samir M'Rabet, Najoua Kahloul, Hassen Sboui, Sihem Trimech, N. Zouari, Felix G. Riepe, Mohamed Tahar Sfar, Fathi Amri, Saloua Makni, Abdelkarim Ayedi, Ali Saad, Ilhem Charfeddine, Eric Clauser, Paul-Martin Holterhus, Slaheddine Chouchane, Moez Gribaa, Hechmi Ben Hamouda

المصدر: Gene. 507(1)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Tunisia, endocrine system diseases, Adolescent, Pseudogene, Population, Molecular Sequence Data, Single-nucleotide polymorphism, Steroid biosynthesis, Biology, urologic and male genital diseases, Polymorphism, Single Nucleotide, Genetics, medicine, Humans, Point Mutation, Congenital adrenal hyperplasia, Allele, education, Child, Gene, Alleles, Genetic Association Studies, education.field_of_study, Adrenal Hyperplasia, Congenital, Base Sequence, Point mutation, nutritional and metabolic diseases, Infant, General Medicine, Middle Aged, medicine.disease, Molecular biology, female genital diseases and pregnancy complications, Child, Preschool, Female, Steroid 21-Hydroxylase, Pseudogenes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85eea49b042f7a19bb4c8932a2e55e59Test
https://pubmed.ncbi.nlm.nih.gov/22841790Test

المؤلفون: Jamel, Chemli, Samia, Boussetta, Saoussen, Krid, Najoua, Kahloul, Saayda, Hassayoun, Abdelfattah, Zakhama, Sawssen, Abroug, Mongia, Hachicha, Fathi, Amri, Mohamed Neji, Guediche, Mohamed Tahar, Sfar, Ahmed Sahloul, Essoussi, Abdelaziz, Harbi

المصدر: La Tunisie medicale. 89(6)

مصطلحات موضوعية: Male, Nephrotic Syndrome, Adolescent, Child, Preschool, Humans, Infant, Female, Child, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d52ee28a6ba43cc1c36c2e66f64a0054Test
https://pubmed.ncbi.nlm.nih.gov/21681713Test