Showing 1 - 18 results of 18 for search 'Saber Masmoudi', query time: 0.06s
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Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical stud... by Mohamed Ali Mosrati, Karima Fadhlaoui‐Zid, Amel Benammar‐Elgaaied, Abdullah Ahmed Gibriel, Mariem Ben Said, Saber Masmoudi
Published 2021-10-01
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A Tunisian patient with CLCN2‐related leukoencephalopathy by Dina Ben Mohamed, Zacharia Saied, Samia Ben Sassi, Mariem Ben Said, Fatma Nabli, Afef Achouri, Cyrine Jeridi, Saber Masmoudi, Rim Amouri
Published 2022-12-01
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<i>Cupressus sempervirens</i> Essential Oil: Exploring the Antibacterial Multitarget Mechanisms, Chemcomputational Toxicity Prediction, and Safety Assessment in Zebrafish Embryos by Sarra Akermi, Slim Smaoui, Khaoula Elhadef, Mariam Fourati, Nacim Louhichi, Moufida Chaari, Ahlem Chakchouk Mtibaa, Aissette Baanannou, Saber Masmoudi, Lotfi Mellouli
Published 2022-04-01
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Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy by Mariem Ben Said, Olfa Jallouli, Abir Ben Aissa, Amal Souissi, Fatma Kamoun, Faiza Fakhfakh, Saber Masmoudi, Ikhlas Ben Ayed, Chahnez Charfi Triki
Published 2024-10-01
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Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the t... by Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Mehdi Hasnaoui, Amal Souissi, Nabil Idriss, Hajer Aloulou, Imen Chabchoub, Bayen Maâlej, Dorra Driss, Saber Masmoudi
Published 2022-02-01
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Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder by Amal Bouzid, Malek Belcadhi, Amal Souissi, Meryam Chelly, Fakher Frikha, Hela Gargouri, Crystel Bonnet, Fida Jebali, Salma Loukil, Christine Petit, Saber Masmoudi, Rifat Hamoudi, Mariem Ben Said
Published 2025-01-01
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The risks of RELN polymorphisms and its expression in the development of otosclerosis. by Saurabh Priyadarshi, Kirtal Hansdah, Neha Singh, Amal Bouzid, Chinmay Sundar Ray, Khirod Chandra Panda, Narayan Chandra Biswal, Ashim Desai, Jyotish Chandra Choudhury, Adel Tekari, Saber Masmoudi, Puppala Venkat Ramchander
Published 2022-01-01
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The risks of RELN polymorphisms and its expression in the development of otosclerosis by Saurabh Priyadarshi, Kirtal Hansdah, Neha Singh, Amal Bouzid, Chinmay Sundar Ray, Khirod Chandra Panda, Narayan Chandra Biswal, Ashim Desai, Jyotish Chandra Choudhury, Adel Tekari, Saber Masmoudi, Puppala Venkat Ramchander
Published 2022-01-01
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Genetic Association of rs1021188 and DNA Methylation Signatures of TNFSF11 in the Risk of Conductive Hearing Loss by Amal Bouzid, Amal Bouzid, Ameni Chelly, Adel Tekari, Neha Singh, Kirtal Hansdah, Imen Achour, Ikhlas Ben Ayed, Fida Jbeli, Ilhem Charfeddine, Puppala Venkat Ramchander, Rifat Hamoudi, Rifat Hamoudi, Saber Masmoudi
Published 2022-04-01
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Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer. by Marwa Mahdouani, Slim Ben Ahmed, Fahmi Hmila, Henda Rais, Rihab Ben Sghaier, Hanene Saad, Mariem Ben Said, Saber Masmoudi, Dorra Hmida, Angela Brieger, Stefan Zeuzem, Ali Saad, Moez Gribaa, Guido Plotz
Published 2022-01-01
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Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer by Marwa Mahdouani, Slim Ben Ahmed, Fahmi Hmila, Henda Rais, Rihab Ben Sghaier, Hanene Saad, Mariem Ben Said, Saber Masmoudi, Dorra Hmida, Angela Brieger, Stefan Zeuzem, Ali Saad, Moez Gribaa, Guido Plotz
Published 2022-01-01
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Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population by Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid, Mohamed Ali Mosrati, Mehdi Hasnaoui, Malek Belcadhi, Nabil Idriss, Hassen Kamoun, Nourhene Gharbi, Abdullah A. Gibriel, Abdelaziz Tlili, Saber Masmoudi
Published 2021-07-01
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8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects by Ikhlas Ben Ayed, Amal Bouzid, Fatma Kammoun, Amal souissi, Olfa Jallouli, Salma Mallouli, Souhir Guidara, Salma Loukil, Hajer Aloulou, Fida Jbeli, Sahar Aouichaoui, Dorra Abid, Fatma Abdelhedi, Chahnez Triki, Hassen Kamoun, Saber Masmoudi
Published 2021-11-01
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Evidence of SARS-CoV-2 symptomatic reinfection in four healthcare professionals from the same hospital despite the presence of antibodies by Saba Gargouri, Amal Souissi, Nabil Abid, Amel Chtourou, Lamia Feki-Berrajah, Rim Karray, Hana Kossentini, Ikhlass Ben Ayed, Fatma Abdelmoula, Olfa Chakroun, Abdennour Nasri, Adnène Hammami, Noureddine Rekik, Saber Masmoudi, Hela Karray-Hakim, Ahmed Rebai
Published 2022-04-01
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Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region by Ikhlas Ben Ayed, Ikhlas Ben Ayed, Olfa Jallouli, Olfa Jallouli, Yoshiko Murakami, Amal Souissi, Salma Mallouli, Salma Mallouli, Amal Bouzid, Fatma Kamoun, Fatma Kamoun, Ines Elloumi, Fakher Frikha, Abdelaziz Tlili, Abdelaziz Tlili, Sarah Weckhuysen, Taroh Kinoshita, Taroh Kinoshita, Chahnez Charfi Triki, Chahnez Charfi Triki, Saber Masmoudi
Published 2023-03-01
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Genome Tunisia Project: paving the way for precision medicine in North Africa by Yosr Hamdi, Mediha Trabelsi, Kais Ghedira, Maroua Boujemaa, Ikhlas Ben Ayed, Cherine Charfeddine, Amal Souissi, Imen Rejeb, Wafa Kammoun Rebai, Chaima Hkimi, Fadoua Neifar, Nouha Jandoubi, Rahma Mkaouar, Melek Chaouch, Ayda Bennour, Selim Kamoun, Hend Chaker Masmoudi, Nabil Abid, Maha Mezghani Khemakhem, On behalf of the GTCA Consortium, Saber Masmoudi, Ali Saad, Lamia BenJemaa, Alia BenKahla, Samir Boubaker, Ridha Mrad, Hassen Kamoun, Sonia Abdelhak, Moez Gribaa, Neila Belguith, Najla Kharrat, Dorra Hmida, Ahmed Rebai
Published 2024-08-01
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