Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Mariem Ben Said"'
Autor:
Mariem Ben Said, Olfa Jallouli, Abir Ben Aissa, Amal Souissi, Fatma Kamoun, Faiza Fakhfakh, Saber Masmoudi, Ikhlas Ben Ayed, Chahnez Charfi Triki
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1697-1709 (2024)
Abstract Objective To develop a high‐throughput sequencing panel for the diagnosis of developmental and epileptic encephalopathy in Tunisia and to clarify the frequency of disease‐causing genes in this region. Methods We developed a custom panel
Externí odkaz:
https://doaj.org/article/4b8f1de5496245df8ee7e1d0e2710950
Autor:
Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 906-917 (2024)
Abstract Objective Mutations in the cyclin‐dependent kinase‐like 5 gene (CDKL5) are associated with a wide spectrum of clinical presentations. Early‐onset epileptic encephalopathy (EOEE) is the most recognized phenotype. Here we describe phenot
Externí odkaz:
https://doaj.org/article/c640a6965bed4f77a3a6d07f66909886
Autor:
Dina Ben Mohamed, Zacharia Saied, Samia Ben Sassi, Mariem Ben Said, Fatma Nabli, Afef Achouri, Cyrine Jeridi, Saber Masmoudi, Rim Amouri
Publikováno v:
Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract CLCN2‐related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the CLCN2 gene and leads to the dysfunction of its encoded CLC‐2 chloride channel protein wit
Externí odkaz:
https://doaj.org/article/55b76e257380470da80c48b7d37b24da
Autor:
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
Publikováno v:
Journal of Advanced Research, Vol 31, Iss , Pp 13-24 (2021)
Introduction: Hearing impairment (HI) is characterized by complex genetic heterogeneity. The evolution of next generation sequencing, including targeted enrichment panels, has revolutionized HI diagnosis. Objectives: In this study, we investigated ge
Externí odkaz:
https://doaj.org/article/d83cd2772882444aaeaa06063629e58a
Autor:
Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Mehdi Hasnaoui, Amal Souissi, Nabil Idriss, Hajer Aloulou, Imen Chabchoub, Bayen Maâlej, Dorra Driss, Saber Masmoudi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 2, Pp n/a-n/a (2022)
Abstract Background In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive. Exploration of the etiology of Hearing Impairment and the
Externí odkaz:
https://doaj.org/article/01fca82a9d894f96ab5b563a1d709a3b
Autor:
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
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0278283 (2022)
Lynch syndrome is a heritable condition caused by a heterozygous germline inactivating mutation of the DNA mismatch repair (MMR) genes, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants, for which the
Externí odkaz:
https://doaj.org/article/2b67d7a74efa41599d01534fef4f9f3e
Autor:
Mohamed Ali Mosrati, Karima Fadhlaoui‐Zid, Amel Benammar‐Elgaaied, Abdullah Ahmed Gibriel, Mariem Ben Said, Saber Masmoudi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Autosomal recessive non‐syndromic hearing loss (ARNSHL) is the most common inherited sensory impairment. It is particularly frequent in North African populations who have a high rate of consanguineous marriage. The c.242G>A homozygous vari
Externí odkaz:
https://doaj.org/article/29daf1cf4ebf4f7b903815af2e77e718
Autor:
Mariem Ben-Said
Publikováno v:
Mediterranean Botany, Vol 43 (2022)
Western Mediterranean firs are endemic and illustrate the Tertiary flora heritage in the Mediterranean basin. Due to their morphological and anatomical similarities, the classification of certain relict firs still debated especially those belonging t
Externí odkaz:
https://doaj.org/article/66893938d809490793df7a419b7fa962
Autor:
Abir Ben Issa, Ikhlas Ben Ayed, Olfa Jallouli, Amal Souissi, Wafa Bouchaalla, Mariem Ben Said, Salma Mallouli, Saber Masmoudi, Chahnez Charfi Triki, Hassen Hadj Kacem, Fatma Kammoun
Publikováno v:
International Journal of Developmental Neuroscience.
Autor:
Mariem Ben-Said
Publikováno v:
Biology and Environment: Proceedings of the Royal Irish Academy. :39-52