Benjemaa L - Search Results

1

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.

Al Kaissi A, Ryabykh S, Nassib N, Bouchoucha S, Benjemaa L, Rejeb I, Hizem S, Kenis V, Grill F, Kircher SG, Shboul M, Ben Chehida F. Al Kaissi A, et al. Among authors: benjemaa l. Diagnostics (Basel). 2022 Sep 30;12(10):2375. doi: 10.3390/diagnostics12102375. Diagnostics (Basel). 2022. PMID: 36292064 Free PMC article.

2

[Interest of studying subtelomeric abnormalities by in situ fluorescent hybridization to explore idiopathic mental retardation].

Hila L, Ben Jemaa L, Daoudi R, Maazoul F, Chaabouni H. Hila L, et al. Tunis Med. 2008 May;86(5):500-5. Tunis Med. 2008. PMID: 19469308 French.

3

DOUBLE TRISOMY MOSAICISM 48,XXX,+8/46,XX IN A FEMALE: THE FIRST REPORTED CASE.

Attig A, Ben Jemaa L, Kraoua L, Jilani H, Maazoul F, Mrad R. Attig A, et al. Genet Couns. 2016;27(3):441-446. Genet Couns. 2016. PMID: 30204977 No abstract available.

4

De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder.

Bayou N, M'rad R, Belhaj A, Daoud H, Ben Jemaa L, Zemni R, Briault S, Helayem MB, Chaabouni H. Bayou N, et al. J Biomed Biotechnol. 2008;2008:231904. doi: 10.1155/2008/231904. J Biomed Biotechnol. 2008. PMID: 18475318 Free PMC article.

5

A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia.

Ouertani I, Chaabouni M, Turki I, Lelorc'h M, Attié-Bitach T, Ben Jemaa L, Khouja-Gouider N, Chaabouni H. Ouertani I, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):256-9. doi: 10.1016/j.ejmg.2009.01.004. Epub 2009 Feb 6. Eur J Med Genet. 2009. PMID: 19450439

6

[Molecular diagnosis of fragile X syndrome].

Ben Jemaa L, Khemir S, Maazoul F, Richard L, Beldjord C, Chaabouni M, Chaabouni H. Ben Jemaa L, et al. Tunis Med. 2008 Nov;86(11):973-7. Tunis Med. 2008. PMID: 19213487 French.

7

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N. Chaabouni HB, et al. Semin Arthritis Rheum. 2007 Jun;36(6):397-401. doi: 10.1016/j.semarthrit.2006.12.004. Epub 2007 Feb 5. Semin Arthritis Rheum. 2007. PMID: 17276496

8

[Value and practical applications of cytogenetic in situ hybridization technique].

Hila L, Ben Jemaa L, Mrad R, Maazoul F, Chaabouni H. Hila L, et al. Tunis Med. 1998 May;76(5):113-9. Tunis Med. 1998. PMID: 9739203 Review. French. No abstract available.

9

X linked mental retardation.

Rejeb I, Ben Jemaa L, Chaabouni H. Rejeb I, et al. Tunis Med. 2009 May;87(5):311-8. Tunis Med. 2009. PMID: 19927760 Review.

10

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. Among authors: benjemaa l. 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.

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