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Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Sassi H, Elaribi Y, Jilani H, Rejeb I, Hizem S, Sebai M, Kasdallah N, Bouthour H, Hannachi S, Beygo J, Saad A, Buiting K, H'mida Ben-Brahim D, BenJemaa L. Sassi H, et al. Among authors: elaribi y. Mol Genet Genomic Med. 2021 Oct;9(10):e1796. doi: 10.1002/mgg3.1796. Epub 2021 Sep 12. Mol Genet Genomic Med. 2021. PMID: 34510813 Free PMC article. Review.
Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).
Essaddam L, Zitouni O, Kraoua L, Trabelsi M, Sassi H, Kmiha S, Charfi F, El Guiche D, Kebaïli R, Jaballah N, Rjeb M, Zouari N, El Aribi Y, Hizem S, Wannes S, Fkih Romdhane I, Sfar MT, Ben Hamouda H, Hadj Salem R, Khlayfia Z, Khmiss T, Monastiri K, Siala N, Chouchane S, Souaa H, Khochtali I, Mahjoub B, Sfar H, Ben Jemâa L, Abroug S, Boughamoura L, Kamoun I, Kamoun T, Mrad R, Ben Becher S. Essaddam L, et al. J Pediatr Endocrinol Metab. 2023 Apr 21;36(6):577-583. doi: 10.1515/jpem-2022-0360. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37084413
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
Hizem S, Maamouri R, Zaouak A, Rejeb I, Karoui S, Sebai M, Jilani H, Elaribi Y, Fenniche S, Cheour M, Bilan F, Ben Jemaa L. Hizem S, et al. Among authors: elaribi y. Ophthalmic Genet. 2024 Feb;45(1):84-94. doi: 10.1080/13816810.2023.2206891. Epub 2023 May 9. Ophthalmic Genet. 2024. PMID: 37158316
11 results