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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1437233/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d1f20ca9f1e041b5805610de30e16616

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1384094/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d53f3da42b5b4e8f9503ec02796dd375

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/569f864a04af411d83938661f5680131

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22479563/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/57342576b21a48938c1554d41bc9bc3c

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::07abc1b940d3dce7ed4addacca29525b
https://doi.org/10.1007/s00339-023-06515-2

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10eed9fa8dee83d1c67ef18ba710098
https://hal-pasteur.archives-ouvertes.fr/pasteur-04072687

المؤلفون: Amel Tounsi, Hadjira Haddad, Hamid Merzouk, Djahida Talantikite-Touati, Roumaïssa Khalfi

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

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 Immunology

مصطلحات 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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5248a41e069b86cf42f995c923b783f5
https://pubmed.ncbi.nlm.nih.gov/25835957

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