SARS-CoV-2 tracking in Tunisia through next-generation sequencing: lessons for the future

por Rebai, Ahmed, Souissi, Amal, Abid, Nabil, Masmoudi, Saber
Publicado 2021

Correction: Transcriptomic analysis of the developing and adult mouse cochlear sensory epithelia

por Smeti, Ibtihel, Assou, Said, Savary, Etienne, Masmoudi, Saber, Zine, Azel
Publicado 2020

Short-term effects of various non-steroidal anti-inflammatory drugs (NSAIDs) on Danio rerio embryos

por Chabchoubi, Imen Ben, Bouchhima, Rim Attya, Louhichi, Nacim, Baanannou, Aissette, Masmoudi, Saber, Hentati, Olfa
Publicado 2023

CDH23 Methylation Status and Presbycusis Risk in Elderly Women

por Bouzid, Amal, Smeti, Ibtihel, Chakroun, Amine, Loukil, Salma, Gibriel, Abdullah Ahmed, Grati, Mhamed, Ghorbel, Abdelmonem, Masmoudi, Saber
Publicado 2018

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...

por Mosrati, Mohamed Ali, Fadhlaoui‐Zid, Karima, Benammar‐Elgaaied, Amel, Gibriel, Abdullah Ahmed, Ben Said, Mariem, Masmoudi, Saber
Publicado 2021

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis

por Ben-Rebeh, Imen, Grati, Mhamed, Bonnet, Crystel, Bouassida, Walid, Hadjamor, Imen, Ayadi, Hammadi, Ghorbel, Abdelmonem, Petit, Christine, Masmoudi, Saber
Publicado 2016

SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

por Hadj-Kacem, Hassen, Kallel, Rihab, Belguith-Maalej, Salima, Mnif, Mouna, Charfeddine, Ilhem, Ghorbel, Abdelmounem, Abid, Mohamed, Ayadi, Hammadi, Masmoudi, Saber
Publicado 2010

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness

por Ben Rebeh, Imen, Morinière, Madeleine, Ayadi, Leila, Benzina, Zeineb, Charfedine, Ilhem, Feki, Jamel, Ayadi, Hammadi, Ghorbel, Abdelmonem, Baklouti, Faouzi, Masmoudi, Saber
Publicado 2010

Cupressus sempervirens Essential Oil: Exploring the Antibacterial Multitarget Mechanisms, Chemcomputational Toxicity Prediction, and Safety Assessment in Zebrafish Embryos

por Akermi, Sarra, Smaoui, Slim, Elhadef, Khaoula, Fourati, Mariam, Louhichi, Nacim, Chaari, Moufida, Chakchouk Mtibaa, Ahlem, Baanannou, Aissette, Masmoudi, Saber, Mellouli, Lotfi
Publicado 2022

A Tunisian patient with CLCN2‐related leukoencephalopathy

por Ben Mohamed, Dina, Saied, Zacharia, Ben Sassi, Samia, Ben Said, Mariem, Nabli, Fatma, Achouri, Afef, Jeridi, Cyrine, Masmoudi, Saber, Amouri, Rim
Publicado 2022

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...

por Said, Mariem Ben, Ayed, Ikhlas Ben, Elloumi, Ines, Hasnaoui, Mehdi, Souissi, Amal, Idriss, Nabil, Aloulou, Hajer, Chabchoub, Imen, Maâlej, Bayen, Driss, Dorra, Masmoudi, Saber
Publicado 2022

Genetic Association of rs1021188 and DNA Methylation Signatures of TNFSF11 in the Risk of Conductive Hearing Loss

por Bouzid, Amal, Chelly, Ameni, Tekari, Adel, Singh, Neha, Hansdah, Kirtal, Achour, Imen, Ben Ayed, Ikhlas, Jbeli, Fida, Charfeddine, Ilhem, Ramchander, Puppala Venkat, Hamoudi, Rifat, Masmoudi, Saber
Publicado 2022

A potential oral microbiome signature associated with coronary artery disease in Tunisia

por Bouzid, Fériel, Gtif, Imen, Alfadhli, Suad, Charfeddine, Salma, Ghorbel, Walid, Abdelhédi, Rania, Benmarzoug, Riadh, Abid, Leila, Bouayed Abdelmoula, Nouha, Elloumi, Inés, Masmoudi, Saber, Rebai, Ahmed, Kharrat, Najla
Publicado 2022

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis

por Bouzid, Amal, Tekari, Adel, Jbeli, Fida, Chakroun, Amine, Hansdah, Kirtal, Souissi, Amal, Singh, Neha, Mosrati, Mohamed Ali, Achour, Imen, Ghorbel, Abdelmonem, Charfeddine, Ilhem, Ramchander, Puppala Venkat, Masmoudi, Saber
Publicado 2020

The risks of RELN polymorphisms and its expression in the development of otosclerosis

por Priyadarshi, Saurabh, Hansdah, Kirtal, Singh, Neha, Bouzid, Amal, Ray, Chinmay Sundar, Panda, Khirod Chandra, Biswal, Narayan Chandra, Desai, Ashim, Choudhury, Jyotish Chandra, Tekari, Adel, Masmoudi, Saber, Ramchander, Puppala Venkat
Publicado 2022

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

por Ben Ayed, Ikhlas, Jallouli, Olfa, Murakami, Yoshiko, Souissi, Amal, Mallouli, Salma, Bouzid, Amal, Kamoun, Fatma, Elloumi, Ines, Frikha, Fakher, Tlili, Abdelaziz, Weckhuysen, Sarah, Kinoshita, Taroh, Triki, Chahnez Charfi, Masmoudi, Saber
Publicado 2023

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer

por Mahdouani, Marwa, Ben Ahmed, Slim, Hmila, Fahmi, Rais, Henda, Ben Sghaier, Rihab, Saad, Hanene, Ben Said, Mariem, Masmoudi, Saber, Hmida, Dorra, Brieger, Angela, Zeuzem, Stefan, Saad, Ali, Gribaa, Moez, Plotz, Guido
Publicado 2022

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

por Souissi, Amal, Ben Said, Mariem, Ben Ayed, Ikhlas, Elloumi, Ines, Bouzid, Amal, Mosrati, Mohamed Ali, Hasnaoui, Mehdi, Belcadhi, Malek, Idriss, Nabil, Kamoun, Hassen, Gharbi, Nourhene, Gibriel, Abdullah A., Tlili, Abdelaziz, Masmoudi, Saber
Publicado 2021

Identification of candidate regions for a novel Usher syndrome type II locus

por Ben Rebeh, Imen, Benzina, Zeineb, Dhouib, Houria, Hadjamor, Imen, Amyere, Mustapha, Ayadi, Leila, Turki, Khalil, Hammami, Bouthaina, Kmiha, Noureddine, Kammoun, Hassen, Hakim, Bochra, Charfedine, Ilhem, Vikkula, Miikka, Ghorbel, Abdelmonem, Ayadi, Hammadi, Masmoudi, Saber
Publicado 2008

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

por Ben Ayed, Ikhlas, Bouzid, Amal, Kammoun, Fatma, souissi, Amal, Jallouli, Olfa, Mallouli, Salma, Guidara, Souhir, Loukil, Salma, Aloulou, Hajer, Jbeli, Fida, Aouichaoui, Sahar, Abid, Dorra, Abdelhedi, Fatma, Triki, Chahnez, Kamoun, Hassen, Masmoudi, Saber
Publicado 2021