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1دورية أكاديمية
المؤلفون: Rahma Mkaouar, Zied Riahi, Jihene Marrakchi, Nessrine Mezzi, Lilia Romdhane, Maroua Boujemaa, Hamza Dallali, Marwa Sayeb, Saida Lahbib, Hajer Jaouadi, Hela Boudabbous, Lotfi Zekri, Mariem Chargui, Olfa Messaoud, Meriem Elyounsi, Ichraf Kraoua, Anissa Zaouak, Ilhem Turki, Mourad Mokni, Sophie Boucher, Christine Petit, Fabrice Giraudet, Chiraz Mbarek, Ghazi Besbes, Soumeyya Halayem, Rim Zainine, Hamida Turki, Amel Tounsi, CRYSTEL Bonnet, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi, Cherine Charfeddine
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: syndromic deafness (SD), spectrum of SDs, next-generation sequencing (NGS), early detection, under-diagnosis, Tunisia, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Rahma Mkaouar, Zied Riahi, Jihene Marrakchi, Nessrine Mezzi, Lilia Romdhane, Maroua Boujemaa, Hamza Dallali, Marwa Sayeb, Saida Lahbib, Hager Jaouadi, Hela Boudabbous, Lotfi Zekri, Mariem Chargui, Olfa Messaoud, Meriem Elyounsi, Ichraf Kraoua, Anissa Zaouak, Ilhem Turki, Mourad Mokni, Sophie Boucher, Christine Petit, Fabrice Giraudet, Chiraz Mbarek, Ghazi Besbes, Soumeyya Halayem, Rim Zainine, Hamida Turki, Amel Tounsi, Crystel Bonnet, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi, Cherine Charfeddine
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: syndromic deafness (SD), spectrum of SDs, next-generation sequencing (NGS), early detection, under-diagnosis, Tunisia, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Rahma Mkaouar, Zied Riahi, Cherine Charfeddine, Imen Chelly, Hela Boudabbous, Hamza Dallali, Crystel Bonnet, Meriem Hechmi, Soumeya Bekri, Nadia Zitouna, Lotfi Zekri, Amel Tounsi, Rym Kefi, Jihene Marrakchi, Olfa Messaoud, Ichraf Kraoua, Sonia Maalej, Ilhem Turki Ben Youssef, Ahlem Ben Hmid, Fabrice Giraudet, Sami Bouchoucha, Neji Tebib, Ghazi Besbes, Christine Petit, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi
المصدر: PLoS ONE, Vol 16, Iss 10, p e0258202 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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4دورية أكاديمية
المؤلفون: Catherine Denis, Kathleen Deiteren, Anneleen Mortier, Amel Tounsi, Erik Fransen, Paul Proost, Jean-Christophe Renauld, Anne-Marie Lambeir
المصدر: PLoS ONE, Vol 7, Iss 3, p e34199 (2012)
وصف الملف: electronic resource
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5
المؤلفون: Roumaissa Khalfi, Djahida Talantikite-Touati, Amel Tounsi, Abdelhafid Souici, Farid Ait Merzeg, Amor Azizi
المصدر: Applied Physics A. 129
مصطلحات موضوعية: General Materials Science, General Chemistry
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المؤلفون: Soumeya Bekri, Olfa Messaoud, Cherine Charfeddine, Hela Boudabbous, Amel Tounsi, Meriem Hechmi, Lotfi Zekri, Rahma Mkaouar, Ghazi Besbes, Ahlem Ben Hmid, Christine Petit, R. M’rad, Neji Tebib, Sami Bouchoucha, Fabrice Giraudet, Rym Kefi, J. Marrakchi, Crystel Bonnet, Imen Chelly, Ichraf Kraoua, Hamza Dallali, Ilhem Turki Ben Youssef, Sonia Abdelhak, Nadia Zitouna, Zied Riahi, Sonia Maalej, Mediha Trabelsi
المساهمون: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Faculté des Sciences Mathématiques, Physiques et Naturelles de Tunis (FST), Université de Tunis El Manar (UTM), Department of Gastroenterology, Habib Bougatfa Hospital, Bizerte, Tunisia, Hôpital La Rabta [Tunis], Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Abderahman Mami Hospital, Laboratoire d'immunologie clinique [Institut Pasteur de Tunis], Institut Pasteur de Tunis, Faculté de Médecine de Tunis, Université Clermont Auvergne (UCA), University of Tunis El Manar, RM is a recipient of a MOBIDOC (http://www.anpr.tn/resultat-mobidoc-session-2017/) fellowship, funded by the EU through the EMORI program and managed by the ANPR., We would like to thank the patients and their families for their participation in this work. The authors also thank Mrs. Rowan Ben Dakhlia for her critical reading of the manuscript.
المصدر: PLoS ONE
PLoS ONE, 2021, 16 (10), pp.e0258202. ⟨10.1371/journal.pone.0258202⟩
PLoS ONE, Vol 16, Iss 10, p e0258202 (2021)مصطلحات موضوعية: Male, MESH: Geography, [SDV]Life Sciences [q-bio], Otology, Deafness, MESH: Base Sequence, MESH: Cognitive Dysfunction, MESH: Membrane Transport Proteins, Consanguinity, Database and Informatics Methods, Medical Conditions, MESH: Audiometry, Gene duplication, Medicine and Health Sciences, Missense mutation, Cognitive decline, Hearing Disorders, Exome, Cognitive Impairment, Sanger sequencing, Genetics, Multidisciplinary, Geography, Cognitive Neurology, MESH: Genetic Predisposition to Disease, Genomics, Genomic Databases, Pedigree, Phenotype, Neurology, symbols, Medicine, Female, Cellular Structures and Organelles, MESH: Tunisia, Research Article, Tunisia, MESH: Mutation, MESH: Exome Sequencing, MESH: Pedigree, Science, Cognitive Neuroscience, Disabilities, Alpha-mannosidosis, MESH: Carrier Proteins, MESH: alpha-Mannosidosis, Biology, Research and Analysis Methods, MESH: Phenotype, Frameshift mutation, symbols.namesake, Audiometry, Intellectual Disability, Exome Sequencing, medicine, Humans, Cognitive Dysfunction, Family, Genetic Predisposition to Disease, MESH: Family, MESH: Consanguinity, MESH: Humans, Base Sequence, Membrane Transport Proteins, Biology and Life Sciences, Computational Biology, Human Genetics, Cell Biology, Genome Analysis, medicine.disease, Human genetics, MESH: Male, Biological Databases, Otorhinolaryngology, Mutation, alpha-Mannosidosis, Mutation Databases, Cognitive Science, Carrier Proteins, Lysosomes, MESH: Female, Neuroscience
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المصدر: Advanced Materials Letters. 9:216-219
مصطلحات موضوعية: 03 medical and health sciences, 0302 clinical medicine, Materials science, Chemical engineering, Doping, General Materials Science, 030212 general & internal medicine, 030204 cardiovascular system & hematology, Thin film, Sol-gel
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ffcb6e59c8a5aaf2570ba28a66d1e385
https://doi.org/10.5185/amlett.2018.1963 -
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المؤلفون: Sandra Prokosch, Tobias Bald, Thomas Tüting, Kun-Hui Lu, Naveen Shridhar, Bernd Arnold, Alexandra Klevenz, Amel Tounsi, Günter Küblbeck
المصدر: Frontiers in Immunology, Vol 6 (2015)
Frontiers in Immunologyمصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, T cell, Immunology, Immune system, Dickkopf-3, In vivo, medicine, anti-tumor response, melanoma, Immunology and Allergy, mesenchymal stem cell, Original Research, chemistry.chemical_classification, business.industry, Melanoma, Mesenchymal stem cell, tumor stroma, medicine.disease, Transplantation, medicine.anatomical_structure, chemistry, Cancer research, business, Glycoprotein, lcsh:RC581-607, CD8
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b10bb95dc54d28f82fbebc7688d42b97
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المؤلفون: Bernd Arnold, Amel Tounsi, Georg Pougialis, Tobias Bald, Thomas Tüting, Maria Papatriantafyllou, Evelyn Gaffal, Thilo Oelert, Michael Meister, Gerhard Moldenhauer, Julia Ludwig, Luisa Klotz, Felix Bestvater, Günter J. Hämmerling
المصدر: The Journal of investigative dermatology. 135(8)
مصطلحات موضوعية: CD4-Positive T-Lymphocytes, Cyclopropanes, Keratinocytes, Encephalomyelitis, Autoimmune, Experimental, T cell, Antigen presentation, Genes, MHC Class II, Inflammation, Dermatitis, Mice, Transgenic, Dermatology, Biochemistry, Autoantigens, Mice, Immune system, Downregulation and upregulation, Antigen, Medicine, Animals, Molecular Biology, Oxazoles, Adaptor Proteins, Signal Transducing, Skin, Mice, Knockout, biology, business.industry, Experimental autoimmune encephalomyelitis, Myelin Basic Protein, Cell Biology, medicine.disease, Myelin basic protein, Disease Models, Animal, medicine.anatomical_structure, Immunology, biology.protein, Intercellular Signaling Peptides and Proteins, medicine.symptom, business
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المؤلفون: Thomas Michiels, Caroline Sommereyns, Laure Dumoutier, Sergei V. Kotenko, Jean-Christophe Renauld, Amel Tounsi
المصدر: Journal of Biological Chemistry. 279:32269-32274
مصطلحات موضوعية: Interleukin, Tyrosine phosphorylation, Cell Biology, Biology, Biochemistry, Cell biology, chemistry.chemical_compound, chemistry, Interferon, Interleukin-21 receptor, medicine, Cancer research, biology.protein, Phosphorylation, STAT1, Tyrosine, Receptor, Molecular Biology, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ff7eb243e4765652eaa8c55216b87e06
https://doi.org/10.1074/jbc.m404789200