المؤلفون: Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, Emna Kerkeni, Fatma-Zohra Chioukh, Sylviane Olschwang, Jean-Pierre Desvignes, Sonia Abdelhak, Valerie Delague, Nicolas Lévy, Kamel Monastiri, Annachiara De Sandre-Giovannoli

المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: Noonan syndrome, RAS-MAPK pathway, RAF1, Dysmorphism, Incontinentia Pigmenti, X-linked disorder, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12887-018-1259-8Test; https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/2075abb963354d6cb92751f79f22ca45Test

المؤلفون: Fatma-Zohra Chioukh, Karim Ben Ameur, Hayet Ben Hmida, Kamel Monastiri

المصدر: The Pan African Medical Journal, Vol 25, Iss 13 (2016)

مصطلحات موضوعية: newborn, umbilical central venous catheterization, pericardial effusion, cardiac tamponade, pericardiocentesis, Medicine

وصف الملف: electronic resource

العلاقة: https://www.panafrican-med-journal.com/content/article/25/13/pdf/13.pdfTest; https://doaj.org/toc/1937-8688Test

الوصول الحر: https://doaj.org/article/b686535fb1384eb9b17f7611bf78b1cfTest

المؤلفون: Fatma Zohra Chioukh, Karim Ben Ameur, Rachida Laamiri, Hayet Ben Hamida, Abellatif Nouri, Kamel Monastiri

المصدر: Journal of Neonatal Surgery, Vol 5, Iss 3 (2016)

مصطلحات موضوعية: Pneumoperitoneum, Perforation, Neonate, Peritoneal needle suction, Pediatrics, RJ1-570, Surgery, RD1-811

وصف الملف: electronic resource

العلاقة: https://www.jneonatalsurg.com/ojs/index.php/jns/article/view/306Test; https://doaj.org/toc/2226-0439Test

الوصول الحر: https://doaj.org/article/1562650e2f93448991c0d345999a00d2Test

المؤلفون: Elisa Calì 1, Sheng-Jia Lin 2, Clarissa Rocca 1, Yavuz Sahin 3, Aisha Al Shamsi 4, Salima El Chehadeh 5, Myriam Chaabouni 6, Kshitij Mankad 7, Evangelia Galanaki 1, Stephanie Efthymiou 1, Sniya Sudhakar 7, Alkyoni Athanasiou-Fragkouli 1, Tamer Çelik 8, Nejat Narlı 9, Sebastiano Bianca 10, David Murphy 11, Francisco Martins De Carvalho Moreira 12, SYNaPS Study Group, Andrea Accogli 13, Cassidy Petree 2, Kevin Huang 2, Kamel Monastiri 14, Masoud Edizadeh 3, Rosaria Nardello 11, Marzia Ognibene 15, Patrizia De Marco 15, Martino Ruggieri 16, Federico Zara 17, Pasquale Striano 18, Yavuz Şahin 19, Lihadh Al-Gazali 20, Marie Therese Abi Warde 21, Benedicte Gerard 22, Giovanni Zifarelli 23, Christian Beetz 23, Sara Fortuna 24, Miguel Soler 25, Enza Maria Valente 26, Gaurav Varshney 2, Reza Maroofian 1, Vincenzo Salpietro 27, Henry Houlden 1, Nardello. Rosaria

المساهمون: Elisa Calì 1, Sheng-Jia Lin 2, Clarissa Rocca 1, Yavuz Sahin 3, Aisha Al Shamsi 4, Salima El Chehadeh 5, Myriam Chaabouni 6, Kshitij Mankad 7, Evangelia Galanaki 1, Stephanie Efthymiou 1, Sniya Sudhakar 7, Alkyoni Athanasiou-Fragkouli 1, Tamer Çelik 8, Nejat Narlı 9, Sebastiano Bianca 10, David Murphy 11, Francisco Martins De Carvalho Moreira 12, SYNaPS Study Group, Andrea Accogli 13, Cassidy Petree 2, Kevin Huang 2, Kamel Monastiri 14, Masoud Edizadeh 3, Rosaria Nardello 11, Marzia Ognibene 15, Patrizia De Marco 15, Martino Ruggieri 16, Federico Zara 17, Pasquale Striano 18, Yavuz Şahin 19, Lihadh Al-Gazali 20, Marie Therese Abi Warde 21, Benedicte Gerard 22, Giovanni Zifarelli 23, Christian Beetz 23, Sara Fortuna 24, Miguel Soler 25, Enza Maria Valente 26, Gaurav Varshney 2, Reza Maroofian 1, Vincenzo Salpietro 27, Henry Houlden 1, Nardello. Rosaria

مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000879580900020; numberofpages:9; journal:GENETICS IN MEDICINE; https://hdl.handle.net/10447/580372Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136518302

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.013Test
https://hdl.handle.net/10447/580372Test

المؤلفون: Hatem, Rouag, Marwa, El-Ouaer, Salma, Dhouib, Zaineb, Ben Mohamed, Ghofrane, Bedoui, Siwar, Abdelmoula, Hayet, Ben Hmida, Kamel, Monastiri

المصدر: Rheumatology ; volume 61, issue Supplement_2 ; ISSN 1462-0324 1462-0332

مصطلحات موضوعية: Pharmacology (medical), Rheumatology

الإتاحة: https://doi.org/10.1093/rheumatology/keac496.074Test
https://academic.oup.com/rheumatology/article-pdf/61/Supplement_2/keac496.074/46356191/keac496.074.pdfTest

المؤلفون: Leila Essaddam, Ons Zitouni, Lilia Kraoua, Madiha Trabelsi, Hella Sassi, Sana Kmiha, Fatma Charfi, Dorra El Guiche, Raoudha Kebaïli, Nesrine Jaballah, Maroua Rjeb, Noura Zouari, Yasmina El Aribi, Syrine Hizem, Salmen Wannes, Ibtihel Fkih Romdhane, Mohamed Tahar Sfar, Hechmi Ben Hamouda, Radhia Hadj Salem, Zied Khlayfia, Tarek Khmiss, Kamel Monastiri, Nadia Siala, Slaheddine Chouchane, Habib Souaa, Inès Khochtali, Bahri Mahjoub, Habib Sfar, Lamia Ben Jemâa, Saoussen Abroug, Lamia Boughamoura, Inès Kamoun, Thouraya Kamoun, Ridha Mrad, Saayda Ben Becher

المصدر: Journal of Pediatric Endocrinology and Metabolism.

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b15567b24b1ac497acfb79bc72641173Test
https://doi.org/10.1515/jpem-2022-0360Test

المؤلفون: Rahma Felhi, Kamel Monastiri, Hayet Ben Hamida, Marwa Ammar, Fatma Zohra Chioukh, Brahim Tabarki, Jihene Chouchen, Faiza Fakhfakh, Abdelaziz Tlili, Emna Mkaouar‐Rebai

المصدر: International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceREFERENCES. 82(8)

مصطلحات موضوعية: Developmental Neuroscience, Codon, Nonsense, Exome Sequencing, Mutation, Humans, Syndrome, Carboxylic Ester Hydrolases, DNA, Mitochondrial, Developmental Biology, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d096ef000756baa66405cd5e475df83Test
https://pubmed.ncbi.nlm.nih.gov/35943861Test

المؤلفون: Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, null Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden, Michael G. Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S. Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W. Saadi, Maha S. Zaki, Chahnez C. Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G. Karimiani, Ahmed M. Salih, Luca A. Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F. Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F. Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D. Mangano, Francesco Chiarelli, Queen Square Genomics

المساهمون: Tıp Fakültesi

مصطلحات موضوعية: Mediator Complex, Homozygote, Human mediator complex, MED11, MEDopathies, Neurodegenerative Diseases, Human Mediator Complex, Animals, Humans, RNA, Zebrafish, Microcephaly, Medopathies, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52Test
https://hdl.handle.net/20.500.12445/2759Test

المؤلفون: Abdellatif Gargouri, I. Turki, Moncef Feki, Hassen Seboui, Myriam Cheour, Kamel Monastiri, Manel Charfi, Wiem Zidi, Neji Tebib, Sana Ben Massoued, Naziha Kaabachi, Awatef Jelassi, Houssain Mejaoual, Khaled Ben Helel, Nabiha Mahdhaoui, Amel Ben Chehida, Fahmi Nasrallah, Sameh Hadj-Taieb, F. Amri, Haifa Sanhaji

المصدر: Neuropediatrics. 51(5)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Pediatrics, Tunisia, Hyperglycinemia, Hyperglycinemia, Nonketotic, Glycine, Prenatal diagnosis, Consanguinity, 030105 genetics & heredity, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Humans, Family history, Age of Onset, Coma, business.industry, Infant, Newborn, Apnea, Infant, General Medicine, medicine.disease, Hypotonia, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d2bef22b0086eea2fa0238f6471b94Test
https://pubmed.ncbi.nlm.nih.gov/32818969Test

المؤلفون: Fatma Zohra, Chioukh, Ahlem, Chaabane, Tarek, Khemis, Awatef, Jlassi, Naziha, Kaabachi, Kamel, Monastiri

المصدر: La Tunisie medicale. 97(5)

مصطلحات موضوعية: Tunisia, Infant, Newborn, Humans, Metabolism, Inborn Errors, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4cf6dc1d2c50f0c5b8d9b883df70205fTest
https://pubmed.ncbi.nlm.nih.gov/31729740Test