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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Mkaouar R, Riahi Z, Charfeddine C, Chelly I, Boudabbous H, Dallali H, Bonnet C, Hechmi M, Bekri S, Zitouna N, Zekri L, Tounsi A, Kefi R, Marrakchi J, Messaoud O, Kraoua I, Maalej S, Turki Ben Youssef I, Ben Hmid A, Giraudet F, Bouchoucha S, Tebib N, Besbes G, Petit C, Mrad R, Abdelhak S, Trabelsi M. Mkaouar R, et al. Among authors: bouchoucha s. PLoS One. 2021 Oct 6;16(10):e0258202. doi: 10.1371/journal.pone.0258202. eCollection 2021. PLoS One. 2021. PMID: 34614013 Free PMC article.
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: bouchoucha s. Genes (Basel). 2021 Nov 29;12(12):1922. doi: 10.3390/genes12121922. Genes (Basel). 2021. PMID: 34946871 Free PMC article.
Infantile systemic hyalinosis: Variable grades of severity.
Al Kaissi A, Hilmi M, Betadolova Z, Bouchoucha S, Trofimova S, Shboul M, Rustamov G, Dwera W, Sigl K, Kenis V, Kircher SG. Al Kaissi A, et al. Among authors: bouchoucha s. Afr J Paediatr Surg. 2021 Oct-Dec;18(4):224-230. doi: 10.4103/ajps.AJPS_162_20. Afr J Paediatr Surg. 2021. PMID: 34341308 Free PMC article.
Torticollis in Connection with Spine Phenotype.
Al Kaissi A, Nassib N, Bouchoucha S, Shboul M, Grill F, Kircher SG, Ochirova P, Ryabykh S. Al Kaissi A, et al. Among authors: bouchoucha s. Diagnostics (Basel). 2022 Jul 9;12(7):1672. doi: 10.3390/diagnostics12071672. Diagnostics (Basel). 2022. PMID: 35885576 Free PMC article.
Growing rods for early-onset scoliosis in Ehlers-Danlos disease.
Toumia ML, Mohseni AA, Nessib MN, Boussetta R, Yacoub-Youssef H, Bouchoucha S. Toumia ML, et al. Among authors: bouchoucha s. Spine Deform. 2023 Jan;11(1):237-242. doi: 10.1007/s43390-022-00580-y. Epub 2022 Oct 14. Spine Deform. 2023. PMID: 36239854
185 results