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Evaluation of X chromosome inactivation in endemic Tunisian pemphigus foliaceus.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2080
By:
- Abida, Olfa;
- Elloumi, Nesrine;
- Bahloul, Emna;
- Hachicha, Hend;
- Sellami, Khadija;
- Fakhfakh, Raouia;
- Marzouk, Sameh;
- Ben Ayed, Ikhlas;
- Mahfoudh, Nadia;
- Turki, Hamida;
- Masmoudi, Hatem
Publication type:
Article
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 thyroid, and the kidneys.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 2, p. 1, doi. 10.1002/mgg3.1868
By:
- Said, Mariem Ben;
- Ayed, Ikhlas Ben;
- Elloumi, Ines;
- Hasnaoui, Mehdi;
- Souissi, Amal;
- Idriss, Nabil;
- Aloulou, Hajer;
- Chabchoub, Imen;
- Maâlej, Bayen;
- Driss, Dorra;
- Masmoudi, Saber
Publication type:
Article
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1811
By:
- 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
Publication type:
Article
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1081, doi. 10.1002/ajmg.a.62065
By:
- Ayed, Ikhlas Ben;
- Ouarda, Wael;
- Frikha, Fakher;
- Kammoun, Fatma;
- Souissi, Amal;
- Said, Mariem Ben;
- Bouzid, Amal;
- Elloumi, Ines;
- Hamdani, Tarak M.;
- Gharbi, Nourhene;
- Baklouti, Nesrine;
- Guirat, Manel;
- Mejdoub, Fatma;
- Kharrat, Najla;
- Boujelbene, Imene;
- Abdelhedi, Fatma;
- Belguith, Neila;
- Keskes, Leila;
- Gibriel, Abdullah Ahmed;
- Kamoun, Hassen
Publication type:
Article
Genome Tunisia Project: paving the way for precision medicine in North Africa.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01365-w
By:
- Hamdi, Yosr;
- Trabelsi, Mediha;
- Ghedira, Kais;
- Boujemaa, Maroua;
- Ben Ayed, Ikhlas;
- Charfeddine, Cherine;
- Souissi, Amal;
- Rejeb, Imen;
- Kammoun Rebai, Wafa;
- Hkimi, Chaima;
- Neifar, Fadoua;
- Jandoubi, Nouha;
- Mkaouar, Rahma;
- Chaouch, Melek;
- Bennour, Ayda;
- Kamoun, Selim;
- Chaker Masmoudi, Hend;
- Abid, Nabil;
- Mezghani Khemakhem, Maha;
- Achour, Ahlem
Publication type:
Article
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.
Published in:
Epilepsia Open, 2024, v. 9, n. 5, p. 1697, doi. 10.1002/epi4.12848
By:
- Ben Said, Mariem;
- Jallouli, Olfa;
- Ben Aissa, Abir;
- Souissi, Amal;
- Kamoun, Fatma;
- Fakhfakh, Faiza;
- Masmoudi, Saber;
- Ben Ayed, Ikhlas;
- Charfi Triki, Chahnez
Publication type:
Article
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.
Published in:
Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1092887
By:
- Ayed, Ikhlas Ben;
- Jallouli, Olfa;
- Yoshiko Murakami;
- Souissi, Amal;
- Mallouli, Salma;
- Bouzid, Amal;
- Kamoun, Fatma;
- Elloumi, Ines;
- Frikha, Fakher;
- Tlili, Abdelaziz;
- Weckhuysen, Sarah;
- Kinoshita, Taroh;
- Triki, Chahnez Charfi;
- Masmoudi, Saber
Publication type:
Article
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Published in:
Annals of Human Genetics, 2022, v. 86, n. 4, p. 181, doi. 10.1111/ahg.12460
By:
- Yahia, Ashraf;
- Ayed, Ikhlas Ben;
- Hamed, Ahlam A.;
- Mohammed, Inaam N.;
- Elseed, Maha A.;
- Bakhiet, Aisha M.;
- Guillot‐Noel, Lena;
- Abozar, Fatima;
- Adil, Rawaa;
- Emad, Sara;
- Abubaker, Rayan;
- Musallam, Mhammed Alhassan;
- Eltazi, Isra Z. M.;
- Omer, Zulfa;
- Maaroof, Omer M.;
- Soussi, Amal;
- Bouzid, Amal;
- Kmiha, Sana;
- Kamoun, Hassen;
- Salih, Mustafa A.
Publication type:
Article
A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature.
Published in:
International Journal of Developmental Neuroscience, 2023, v. 83, n. 4, p. 383, doi. 10.1002/jdn.10266
By:
- Ben Issa, Abir;
- Ben Ayed, Ikhlas;
- Jallouli, Olfa;
- Souissi, Amal;
- Bouchaalla, Wafa;
- Ben Said, Mariem;
- Mallouli, Salma;
- Masmoudi, Saber;
- Charfi Triki, Chahnez;
- Hadj Kacem, Hassen;
- Kammoun, Fatma
Publication type:
Article

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