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Page 1
A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
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
Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
Kammoun Jellouli N, Salem IH, Ellouz E, Louhichi N, tlili A, Kammoun F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation Study.
Kammoun Jellouli N, et al.
Gene. 2013 Jan 25;513(2):233-8. doi: 10.1016/j.gene.2012.10.070. Epub 2012 Nov 7.
Gene. 2013.
PMID: 23142375
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Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.
Kallabi F, Belghuith N, Aloulou H, Kammoun T, Ghorbel S, Hajji M, Gallas S, Chemli J, Chabchoub I, Azzouz H, Ben Chehida A, Sfaihi L, Makni S, Amouri A, Keskes L, Tebib N, Ben Becher S, Hachicha M, Kamoun H.
Kallabi F, et al. Among authors: belghuith n.
Arch Med Res. 2016 Feb;47(2):105-10. doi: 10.1016/j.arcmed.2016.04.004. Epub 2016 Apr 28.
Arch Med Res. 2016.
PMID: 27133709
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Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation study.
Jellouli NK, et al.
J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27.
J Hum Genet. 2014.
PMID: 24573090
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