M'rad R - Search Results

1

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. 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

2

[Molecular studies of chromosome Y in 20 patients with 46,XY karyotype].

Ben Jemaa Khemakhem L, Hila L, Mrad R, Maazoul F, Chaabouni H. Ben Jemaa Khemakhem L, et al. Tunis Med. 1997 Oct;75(10):762-7. Tunis Med. 1997. PMID: 9507345 French. No abstract available.

3

[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.

4

Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54).

Jemaa LB, des Portes V, Zemni R, Mrad R, Maazoul F, Beldjord C, Chaabouni H, Chelly J. Jemaa LB, et al. Am J Med Genet. 1999 Jul 30;85(3):276-82. doi: 10.1002/(sici)1096-8628(19990730)85:3<276::aid-ajmg18>3.0.co;2-i. Am J Med Genet. 1999. PMID: 10398243

5

[Epidemiologic and genetic study of trisomy 21 in Tunisia].

Chaabouni H, Smaoui N, Maazoul F, Ben Jemaa L, M'Rad R. Chaabouni H, et al. Tunis Med. 1999 Aug-Sep;77(8-9):407-14. Tunis Med. 1999. PMID: 10611817 French. No abstract available.

6

Prenatal diagnosis of chromosome disorders in Tunisian population.

Chaabouni H, Chaabouni M, Maazoul F, M'Rad R, Jemaa LB, Smaoui N, Terras K, Kammoun H, Belghith N, Ridene H, Oueslati B, Zouari F. Chaabouni H, et al. Ann Genet. 2001 Apr-Jun;44(2):99-104. doi: 10.1016/s0003-3995(01)01046-2. Ann Genet. 2001. PMID: 11522249

7

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.

Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refaï M, Morel Y, Chaabouni H. Kharrat M, et al. J Clin Endocrinol Metab. 2004 Jan;89(1):368-74. doi: 10.1210/jc.2003-031056. J Clin Endocrinol Metab. 2004. PMID: 14715874

8

A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia.

Kharrat M, Tardy V, M'rad R, Maazoul F, Morel Y, Chaabouni H. Kharrat M, et al. Diagn Mol Pathol. 2005 Dec;14(4):250-2. doi: 10.1097/01.pas.0000177797.81206.eb. Diagn Mol Pathol. 2005. PMID: 16319697

9

Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients.

Mrad R, Dorboz I, Ben Jemaa L, Maazoul F, Trabelsi M, Chaabouni M, Mlaiki B, Miladi N, Hentati F, Chaabouni H. Mrad R, et al. Tunis Med. 2006 Aug;84(8):465-9. Tunis Med. 2006. PMID: 17175684

10

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

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