Trabelsi M - Search Results

1

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: trabelsi m. PLoS One. 2021 Oct 6;16(10):e0258202. doi: 10.1371/journal.pone.0258202. eCollection 2021. PLoS One. 2021. PMID: 34614013 Free PMC article.

2

Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.

Trabelsi M, Nouira M, Maazoul F, Kraoua L, Meddeb R, Ouertani I, Chelly I, Benoit V, Besbes G, Mrad R. Trabelsi M, et al. Int J Pediatr Otorhinolaryngol. 2017 Dec;103:14-19. doi: 10.1016/j.ijporl.2017.09.029. Epub 2017 Sep 28. Int J Pediatr Otorhinolaryngol. 2017. PMID: 29224756

3

Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.

Lahbib S, Trabelsi M, Dallali H, Sakka R, Bourourou R, Kefi R, Mrad R, Abdelhak S, Gaddour N. Lahbib S, et al. Among authors: trabelsi m. Mol Biol Rep. 2019 Aug;46(4):4185-4193. doi: 10.1007/s11033-019-04869-6. Epub 2019 May 16. Mol Biol Rep. 2019. PMID: 31098807

4

Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy.

Trabelsi M, Chelly I, Maazoul F, Chaabouni M, Ouertani I, Kraoua L, Khemakhem L, Mrad R, Chaabouni H. Trabelsi M, et al. Eur J Med Genet. 2013 Jan;56(1):13-9. doi: 10.1016/j.ejmg.2012.10.012. Epub 2012 Nov 8. Eur J Med Genet. 2013. PMID: 23142735

5

Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome.

Kharrat M, Tajouri A, Nacef IB, Hizem C, Trabelsi M, Maazoul F, M'rad R, Chaabouni HB. Kharrat M, et al. Among authors: m rad r, trabelsi m. Steroids. 2019 Dec;152:108489. doi: 10.1016/j.steroids.2019.108489. Epub 2019 Sep 6. Steroids. 2019. PMID: 31499074

6

Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.

Kerkeni N, Kharrat M, Maazoul F, Boudabous H, M'rad R, Trabelsi M. Kerkeni N, et al. Among authors: m rad r, trabelsi m. J Clin Neurol. 2022 Mar;18(2):214-222. doi: 10.3988/jcn.2022.18.2.214. Epub 2022 Feb 14. J Clin Neurol. 2022. PMID: 35196747 Free PMC article.

7

A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.

Abaied L, Trabelsi M, Chaabouni M, Kharrat M, Kraoua L, M'rad R, Tebib N, Maazoul F, Chaabouni H. Abaied L, et al. Among authors: m rad r, trabelsi m. Am J Med Genet A. 2010 Jan;152A(1):141-6. doi: 10.1002/ajmg.a.33179. Am J Med Genet A. 2010. PMID: 20034088

8

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.

Trabelsi M, Bahri W, Habibi M, Zainine R, Maazoul F, Ghazi B, Chaabouni H, Mrad R. Trabelsi M, et al. Int J Pediatr Otorhinolaryngol. 2013 May;77(5):714-6. doi: 10.1016/j.ijporl.2013.01.024. Epub 2013 Feb 19. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23434199

9

WDR73-related galloway mowat syndrome with collapsing glomerulopathy.

El Younsi M, Kraoua L, Meddeb R, Ferjani M, Trabelsi M, Ouertani I, Maazoul F, Abid N, Gargah T, M'rad R. El Younsi M, et al. Among authors: m rad r, trabelsi m. Eur J Med Genet. 2019 Sep;62(9):103550. doi: 10.1016/j.ejmg.2018.10.002. Epub 2018 Oct 10. Eur J Med Genet. 2019. PMID: 30315938

10

In vitro functional characterization of androgen receptor gene mutations at arginine p.856 of the ligand-binding-domain associated with androgen insensitivity syndrome.

Tajouri A, Kharrat M, Trabelsi M, M'rad R, Hiort O, Werner R. Tajouri A, et al. Among authors: m rad r, trabelsi m. J Steroid Biochem Mol Biol. 2021 Apr;208:105834. doi: 10.1016/j.jsbmb.2021.105834. Epub 2021 Feb 3. J Steroid Biochem Mol Biol. 2021. PMID: 33548461

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