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1دورية أكاديمية
المؤلفون: Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa, Rim Goucha
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Karyomegalic interstitial nephritis, Chronic tubulointerstitial nephritis, FAN1 gene, Frameshift variants, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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2دورية أكاديمية
المؤلفون: Houweyda Jilani, Faten Hsoumi, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Molka Sebai, Arndt Rolfs, Lamia Benjemaa
المصدر: Clinical Case Reports, Vol 10, Iss 5, Pp n/a-n/a (2022)
مصطلحات موضوعية: Gaucher disease, GBA gene, p.Arg87Trp, R48W, rare pathogenic variant, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
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3دورية أكاديمية
المؤلفون: Mohammad Shboul, Hela Sassi, Houweyda Jilani, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Lamia Ben Jemaa, Marwa Hilmi, Susanna Gerit Kircher, Ali Al Kaissi
المصدر: AIMS Molecular Science, Vol 8, Iss 1, Pp 76-85 (2021)
مصطلحات موضوعية: mutation col2a1, spondyloepiphyseal dysplasia congenita, extended phenotype, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2372-0301Test
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4دورية أكاديمية
المؤلفون: Hela Sassi, Yasmina Elaribi, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Molka Sebai, Nadia Kasdallah, Habib Bouthour, Samia Hannachi, Jasmin Beygo, Ali Saad, Karin Buiting, Dorra H’mida Ben‐Brahim, Lamia BenJemaa
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
مصطلحات موضوعية: adrenocortical tumors, Beckwith–Wiedemann syndrome, correlation, epigenetic, genomic imprinting, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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5دورية أكاديمية
المؤلفون: Ali Al Kaissi, Sergey Ryabykh, Nabil Nassib, Sami Bouchoucha, Lamia Benjemaa, Imen Rejeb, Syrine Hizem, Vladimir Kenis, Franz Grill, Susanne Gerit Kircher, Mohammad Shboul, Farid Ben Chehida
المصدر: Diagnostics, Vol 12, Iss 10, p 2375 (2022)
مصطلحات موضوعية: craniofacial malformation, Idaho syndrome, Russel–Silver syndrome, contractual arachnodactyly Beals, Parry–Romberg syndrome, Medicine (General), R5-920
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
مصطلحات موضوعية: Cohen syndrome, VPS13B gene, Compound heterozygous mutation, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-017-0493-5Test; https://doaj.org/toc/1471-2350Test
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7
المؤلفون: Syrine Hizem, Rym Maamouri, Anissa Zaouak, Imen Rejeb, Sana Karoui, Molka Sebai, Houweyda Jilani, Yasmina Elaribi, Sami Fenniche, Monia Cheour, Frédéric Bilan, Lamia Ben Jemaa
المصدر: Ophthalmic Genetics. :1-11
مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::841418f3e6d9162500534ec0d5feee64Test
https://doi.org/10.1080/13816810.2023.2206891Test -
8دورية أكاديمية
المؤلفون: Imen Rejeb, M. Jerbi, Houweyda Jilani, H. Gaied, Yasmina Elaribi, Syrine Hizem, R. Aoudia, H. Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa, Rim Goucha
مصطلحات موضوعية: Mechanisms and Renoprotective Strategies for Cisplatin Nephrotoxicity, Pathology and Forensic Medicine, Medicine, Health Sciences, Aristolochic Acid Nephropathy and Urothelial Cancer, Radiology, Nuclear Medicine and Imaging, Ciliopathies Genetic Disorders Involving Primary Cilia, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Kidney Injury, Frameshift mutation, Biology, Human genetics, Gene, Mutation
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9دورية أكاديمية
المؤلفون: Mohammad Shboul, H. Sahli, Houweyda Jilani, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Lamia Ben Jemâa, Marwa Hilmi, Susanna Gerit Kircher, Ali Al Kaissi
مصطلحات موضوعية: Genetic and Molecular Studies of Connective Tissue Disorders, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Role of Osteopontin in Biomineralization and Inflammation, Rheumatology, Medicine, Health Sciences, Integrin Signaling in Inflammation and Cancer, Immunology and Allergy, Collagen Disorders, Phenotype, Mutation, Glycine, Gene, Short stature, Genotype, Serine, Exon, Biology, Pediatrics, Amino acid, Phosphorylation
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10
المؤلفون: Rym Maamouri, Syrine Hizem, Ines Kammoun, Yasmina Elaribi, Imen Rejeb, Molka Sebai, Houweyda Jilani, Cécile Rouzier, Monia Cheour, Véronique Paquis-Flucklinger, Lamia Ben Jemaa
المصدر: Ophthalmic Genetics. 44:304-312
مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f3323e8e31d22004e8e25197b78504f1Test
https://doi.org/10.1080/13816810.2022.2113546Test