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Page 1
Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I.
Abdellaoui N, Abdelmoula B, Abdelhedi R, Kharrat N, Tabebi M, Rebai A, Bouayed Abdelmoula N. Abdellaoui N, et al. Among authors: tabebi m. J Clin Lab Anal. 2022 Jun;36(6):e24482. doi: 10.1002/jcla.24482. Epub 2022 May 9. J Clin Lab Anal. 2022. PMID: 35527687 Free PMC article.
Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
Vallera RD, Ding Y, Hatanpaa KJ, Bishop JA, Mirfakhraee S, Alli AA, Tevosian SG, Tabebi M, Gimm O, Söderkvist P, Estrada-Zuniga C, Dahia PLM, Ghayee HK. Vallera RD, et al. Among authors: tabebi m. Front Endocrinol (Lausanne). 2022 Nov 7;13:1024108. doi: 10.3389/fendo.2022.1024108. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36440216 Free PMC article.
A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Jaouadi A, Tabebi M, Abdelhedi F, Abid D, Kamoun F, Chabchoub I, Maatoug S, Doukali H, Belghuith N, Ksentini MA, Keskes LA, Triki C, Hachicha M, Kamoun S, Kamoun H. Jaouadi A, et al. Among authors: tabebi m. Biochem Biophys Res Commun. 2018 May 15;499(3):563-569. doi: 10.1016/j.bbrc.2018.03.190. Epub 2018 Mar 28. Biochem Biophys Res Commun. 2018. PMID: 29596833
22 results