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Page 1
Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.
Genes (Basel). 2022 Sep 27;13(10):1748. doi: 10.3390/genes13101748.
Genes (Basel). 2022.
PMID: 36292632
Free PMC article.
Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.
Bouchoucha S, Chikhaoui A, Najjar D, Zayoud K, Zouari M, Nessib MN, Kéfi R, Yacoub-Youssef H.
Bouchoucha S, et al. Among authors: najjar d.
Front Pediatr. 2023 Sep 7;11:1132023. doi: 10.3389/fped.2023.1132023. eCollection 2023.
Front Pediatr. 2023.
PMID: 37744435
Free PMC article.
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Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
Zayoud K, Kraoua I, Chikhaoui A, Calmels N, Bouchoucha S, Obringer C, Crochemore C, Najjar D, Zarrouk S, Miladi N, Laugel V, Ricchetti M, Turki I, Yacoub-Youssef H.
Zayoud K, et al. Among authors: najjar d.
Genes (Basel). 2021 Nov 29;12(12):1922. doi: 10.3390/genes12121922.
Genes (Basel). 2021.
PMID: 34946871
Free PMC article.
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Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging.
Zayoud K, Chikhaoui A, Kraoua I, Tebourbi A, Najjar D, Ayari S, Safra I, Kraiem I, Turki I, Menif S, Yacoub-Youssef H.
Zayoud K, et al. Among authors: najjar d.
Cells. 2024 Feb 26;13(5):402. doi: 10.3390/cells13050402.
Cells. 2024.
PMID: 38474366
Free PMC article.
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Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases.
Bouchoucha S, Chikhaoui A, Najjar D, Dallali H, Khammessi M, Abdelhak S, Nessibe N, Shboul M, Kircher SG, Al Kaissi A, Yacoub-Youssef H.
Bouchoucha S, et al. Among authors: najjar d.
Front Pediatr. 2020 Apr 16;8:172. doi: 10.3389/fped.2020.00172. eCollection 2020.
Front Pediatr. 2020.
PMID: 32373565
Free PMC article.
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