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Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 583, doi. 10.1007/s00439-021-02314-y
By:
- Souissi, Amal;
- Gibriel, Abdullah A.;
- Masmoudi, Saber
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
Gene duplication and functional divergence of the zebrafish otospiralin genes.
Published in:
Development Genes & Evolution, 2020, v. 230, n. 1, p. 27, doi. 10.1007/s00427-019-00642-8
By:
- Baanannou, Aissette;
- Rastegar, Sepand;
- Bouzid, Amal;
- Takamiya, Masanari;
- Gerber, Vanessa;
- Souissi, Amal;
- Beil, Tanja;
- Jrad, Olfa;
- Strähle, Uwe;
- Masmoudi, Saber
Publication type:
Article
Correction to: Gene duplication and functional divergence of the zebrafish otospiralin genes.
Published in:
2020
By:
- Baanannou, Aissette;
- Rastegar, Sepand;
- Bouzid, Amal;
- Takamiya, Masanari;
- Gerber, Vanessa;
- Souissi, Amal;
- Beil, Tanja;
- Jrad, Olfa;
- Strähle, Uwe;
- Masmoudi, Saber
Publication type:
Correction Notice
Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis.
Published in:
BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01036-8
By:
- 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
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
On the Analysis and Torque Enhancement of Flux-Switching Permanent Magnet Machines in Electric Power Steering Systems.
Published in:
World Electric Vehicle Journal, 2022, v. 13, n. 4, p. 64, doi. 10.3390/wevj13040064
By:
- Abdelkefi, Anis;
- Souissi, Amal;
- Abdennadher, Imen;
- Masmoudi, Ahmed
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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