Ben Jemaa L - Search Results

1

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.

Hizem S, Elaribi Y, Ben Slama S, Dimassi K, Jilani H, Rejeb I, Sebaï M, Bekri S, Ben Jemaa L. Hizem S, et al. Among authors: ben jemaa l. Clin Chim Acta. 2021 Feb;513:68-70. doi: 10.1016/j.cca.2020.12.027. Epub 2020 Dec 29. Clin Chim Acta. 2021. PMID: 33382994

2

Y chromosome microdeletions in Tunisian infertile males.

Rejeb I, M'rad R, Maazoul F, Trabelsi M, Ben Jemaa L, Chaabouni M, Zhioua F, Chaabouni H. Rejeb I, et al. Among authors: ben jemaa l. Pathol Biol (Paris). 2008 May;56(3):111-5. doi: 10.1016/j.patbio.2007.05.002. Epub 2007 Nov 26. Pathol Biol (Paris). 2008. PMID: 18031951

3

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.

Rejeb I, Saillour Y, Castelnau L, Julien C, Bienvenu T, Taga P, Chaabouni H, Chelly J, Ben Jemaa L, Bahi-Buisson N. Rejeb I, et al. Among authors: ben jemaa l. Eur J Hum Genet. 2008 Nov;16(11):1358-63. doi: 10.1038/ejhg.2008.103. Epub 2008 Jun 4. Eur J Hum Genet. 2008. PMID: 18523455

4

X linked mental retardation.

Rejeb I, Ben Jemaa L, Chaabouni H. Rejeb I, et al. Among authors: ben jemaa l. Tunis Med. 2009 May;87(5):311-8. Tunis Med. 2009. PMID: 19927760 Free article. Review.

5

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

Rejeb I, Ben Jemaa L, Abaied L, Kraoua L, Saillour Y, Maazoul F, Chelly J, Chaabouni H. Rejeb I, et al. Among authors: ben jemaa l. Eur J Med Genet. 2011 May-Jun;54(3):241-6. doi: 10.1016/j.ejmg.2011.01.010. Epub 2011 Feb 26. Eur J Med Genet. 2011. PMID: 21315190

6

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L. Rejeb I, et al. BMC Med Genet. 2017 Nov 17;18(1):134. doi: 10.1186/s12881-017-0493-5. BMC Med Genet. 2017. PMID: 29149870 Free PMC article.

7

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.

Rejeb I, Jerbi M, Jilani H, Gaied H, Elaribi Y, Hizem S, Aoudia R, Hedri H, Zaied C, Abid S, Bacha H, BenAbdallah T, BenJemaa L, Goucha R. Rejeb I, et al. BMC Med Genomics. 2021 Jun 14;14(1):160. doi: 10.1186/s12920-021-01009-7. BMC Med Genomics. 2021. PMID: 34126972 Free PMC article.

8

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. 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.

9

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.

Jilani H, Hsoumi F, Rejeb I, Elaribi Y, Hizem S, Sebai M, Rolfs A, Benjemaa L. Jilani H, et al. Clin Case Rep. 2022 May 12;10(5):e05846. doi: 10.1002/ccr3.5846. eCollection 2022 May. Clin Case Rep. 2022. PMID: 35592045 Free PMC article.

10

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Maamouri R, Hizem S, Kammoun I, Elaribi Y, Rejeb I, Sebai M, Jilani H, Rouzier C, Cheour M, Paquis-Flucklinger V, Ben Jemaa L. Maamouri R, et al. Among authors: ben jemaa l. Ophthalmic Genet. 2023 Jun;44(3):304-312. doi: 10.1080/13816810.2022.2113546. Epub 2022 Sep 12. Ophthalmic Genet. 2023. PMID: 36094066

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