Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Fatma, Kammoun"'
Autor:
Marwa Ben Jdila, Cécile Mignon-Ravix, Sihem Ben Ncir, Fatma Kammoun, Faiza Fakhfakh, Laurent Villard, Chahnez Triki
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Developmental and epileptic encephalopathies (DEE) are chronic neurological conditions where epileptic activity contributes to the progressive disruption of brain function, frequently leading to impaired motor, cognitive and senso
Externí odkaz:
https://doaj.org/article/58e44db4600b4bbc83570bb929e59106
Autor:
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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, a variable degree of intellectual disability and ocular, cardiac and hand/feet abnormalities. To date, ZFHX4 is the only
Externí odkaz:
https://doaj.org/article/a21fb15130e34021bb3464c79a22b09f
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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8cc47fecb46b3815d89d91866ea2df8
https://doi.org/10.1002/jdn.10266
https://doi.org/10.1002/jdn.10266
Autor:
Sana Sellami, Leila Triki, Triki Chahnez, Hela Zouari, Fatma Kammoun, Kammoun Ines, Kaouthar Masmoudi
Publikováno v:
Revue Neurologique. 179:S62-S63
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::696e1dfe94289d7650e723483c935e7e
https://doi.org/10.1016/j.neurol.2023.01.399
https://doi.org/10.1016/j.neurol.2023.01.399
Autor:
Taieb, Ach, Fatma, Kammoun, Hamza El, Fekih, Nassim Ben Haj, Slama, Siwar, Kahloun, Fatma Ben, Fredj, Chédia, Laouani, Koussay, Ach
Publikováno v:
Therapies.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a36c734d1a0f3d14eda94fd1582ac91d
https://doi.org/10.1016/j.therap.2022.09.007
https://doi.org/10.1016/j.therap.2022.09.007
Autor:
Sana Sellami, Leila Triki, Triki Chahnez, Hela Zouari, Fatma Kammoun, Kammoun Ines, Kaouthar Masmoudi
Publikováno v:
Revue Neurologique. 179:S79
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::956324102ade14e60fc6cc3f98940684
https://doi.org/10.1016/j.neurol.2023.01.432
https://doi.org/10.1016/j.neurol.2023.01.432
Autor:
Fatma Kammoun, Marwa Maalej, Chahnez Triki, Wafa Bouchaala, Emna Mkaouar-Rebai, Marwa Kharrat, Marwa Ammar, Faiza Fakhfakh
Publikováno v:
Acta Neurologica Belgica. 121:1733-1740
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive cerebellar ataxia disorder that is caused by a mutation in the alpha-tocopherol transfer protein gene TTPA, leading to a lower level of serum vitamin E. Although it is alm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60b16971c4b6e452142efc765c381bfe
https://doi.org/10.1007/s13760-020-01490-4
https://doi.org/10.1007/s13760-020-01490-4
Autor:
Chahnez Triki, Fatma Kammoun, Saber Masmoudi, Amal Bouzid, Sahar Aouichaoui, Hajer Aloulou, Souhir Guidara, Salma Loukil, Dorra Abid, Salma Zouari Mallouli, Ikhlas Ben Ayed, Olfa Jallouli, Hassen Kamoun, Fida Jbeli, Fatma Abdelhedi, Amal Souissi
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Background 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, a variable degree of intellectual disability and ocular, cardiac and hand/feet abnormalities. To date, ZFHX4 is the only candidat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec7a9c9a418c0c8837d6ce2a9689c20
https://doi.org/10.1002/mgg3.1811
https://doi.org/10.1002/mgg3.1811
Autor:
Fatma Kammoun, Leila Keskes, Wael Ouarda, Najla Kharrat, Fatma Mejdoub, Nesrine Baklouti, Abdullah A.Y. Gibriel, Hassen Kamoun, Ines Elloumi, Fatma Abdelhedi, Fakher Frikha, Ikhlas Ben Ayed, Adel M. Alimi, Imene Boujelbene, Manel Guirat, Mariem Ben Said, Neila Belguith, N. Gharbi, Tarak M Hamdani, Chahnez Triki, Amal Souissi, Saber Masmoudi, Amal Bouzid
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(4)
Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development of various dysm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade90112fc16fb60f4066f3b1b945c8f
https://pubmed.ncbi.nlm.nih.gov/33403770
https://pubmed.ncbi.nlm.nih.gov/33403770
Autor:
Sahar Chakroun, Sana Sellami, Mahdi Adouania, Wafa Bouchaala, Salma Zouari, Fatma Kammoun, Chahnez Triki
Publikováno v:
Revue Neurologique. 178:S13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd9ff2946209d4733beee6df2230fe4e
https://doi.org/10.1016/j.neurol.2022.02.148
https://doi.org/10.1016/j.neurol.2022.02.148