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1دورية أكاديمية
المؤلفون: Hela Sassi, Rym Meddeb, Mohamed Aziz Cherif, Chiraz Nasr, Aouatef Riahi, Samia Hannachi, Neila Belguith, Ridha M’rad
المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)
مصطلحات موضوعية: Li–Fraumeni syndrome, TP53 germline variants, Breast cancer, Phyllode tumor, Intralobular breast carcinoma, Osteosarcoma, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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2دورية أكاديمية
المؤلفون: Asma Chikhaoui, Ichraf Kraoua, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Khouloud Zayoud, Benjamin Montagne, Ridha M’rad, Sonia Abdelhak, Vincent Laugel, Miria Ricchetti, Ilhem Turki, Houda Yacoub-Youssef
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
مصطلحات موضوعية: Cockayne syndrome, Targeted gene sequencing, ERCC8, CSA, Clinical heterogeneity, Siblings, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Lilia Kraoua, Hager Jaouadi, Mohamed Allouche, Ahlem Achour, Hakim Kaouther, Habib Ben Ahmed, Lilia Chaker, Faouzi Maazoul, Fatma Ouarda, Stéphane Zaffran, Ridha M'rad
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
مصطلحات موضوعية: ACTN2 gene, HCM/DCM, LZTR1 gene, Noonan syndrome, postmortem whole‐exome sequencing, sudden cardiac death, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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4دورية أكاديمية
المؤلفون: Najah Mighri, Yosr Hamdi, Maroua Boujemaa, Houcemeddine Othman, Sonia Ben Nasr, Houda El Benna, Nesrine Mejri, Soumaya Labidi, Jihen Ayari, Olfa Jaidene, Hanen Bouaziz, Mariem Ben Rekaya, Ridha M’rad, Abderrazek Haddaoui, Khaled Rahal, Hamouda Boussen, Samir Boubaker, Sonia Abdelhak
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: breast cancer, genetic screening, BRCA1-founder mutation, next-generation sequencing, novel mutation, RAD50, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: François M. Petit, Marylise Hébert, Vincent Gajdos, Liliane Capel, Ridha M’Rad, Philippe Labrune
المصدر: Haematologica, Vol 93, Iss 10 (2008)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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6
المؤلفون: Hela Sassi, Rym Meddeb, Mediha Trabelsi, Samia Hannachi, Neila Belguith, Imen Abbes, Khaled Rahal, Karima Mrad, Amel Mezlini, Ridha M’rad
المصدر: Clinical Oncology and Research. :1-7
مصطلحات موضوعية: Proband, Genetics, Mutation, endocrine system diseases, Genetic counseling, Point mutation, Biology, medicine.disease, medicine.disease_cause, Germline, Frameshift mutation, Germline mutation, medicine, General Earth and Planetary Sciences, skin and connective tissue diseases, Ovarian cancer, General Environmental Science
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f5de88108aaec0a6604afadcf064cca0
https://doi.org/10.31487/j.cor.2021.01.03 -
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المؤلفون: Mariem El Younsi, Médiha Trabelsi, Sandra Ben Youssef, Inès Ouertani, Yousra Hammi, Ahlem Achour, Faouzi Maazoul, Maher Kharrat, Tahar Gargah, Ridha M’rad
المصدر: Pediatric nephrology (Berlin, Germany). 38(1)
مصطلحات موضوعية: Nephrology, Pediatrics, Perinatology and Child Health
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8
المؤلفون: Nesrine, Kerkeni, Maher, Kharrat, Faouzi, Maazoul, Hela, Boudabous, Ridha, M'rad, Mediha, Trabelsi
المصدر: Journal of clinical neurology (Seoul, Korea). 18(2)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ca97926fcbe5061a7966591e1c52248a
https://pubmed.ncbi.nlm.nih.gov/35196747 -
9
المؤلفون: Nesrine Kerkeni, Maher Kharrat, Faouzi Maazoul, Hela Boudabous, Ridha M’rad, Mediha Trabelsi
المصدر: Journal of Clinical Neurology. 18:214
مصطلحات موضوعية: Neurology, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8d7e502e7a8607d87964fc505cce7adb
https://doi.org/10.3988/jcn.2022.18.2.214 -
10
المؤلفون: Najah, Mighri, Yosr, Hamdi, Maroua, Boujemaa, Houcemeddine, Othman, Sonia, Ben Nasr, Houda, El Benna, Nesrine, Mejri, Soumaya, Labidi, Jihen, Ayari, Olfa, Jaidene, Hanen, Bouaziz, Mariem, Ben Rekaya, Ridha, M'rad, Abderrazek, Haddaoui, Khaled, Rahal, Hamouda, Boussen, Samir, Boubaker, Sonia, Abdelhak
المصدر: Frontiers in Genetics
مصطلحات موضوعية: breast cancer, Genetics, BRCA1-founder mutation, RAD50, next-generation sequencing, genetic screening, novel mutation, Original Research
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::121bf49ba88035c524867a026b63c038
https://pubmed.ncbi.nlm.nih.gov/33240314