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	1.	Prevalence of Bardet-Biedl syndrome in Tunisia. [electronic resource] by M'hamdi, Oussama Ouertani, Ines Maazoul, Faouzi Chaabouni-Bouhamed, Habiba Producer: 20111123 In: Journal of community genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods. [electronic resource] by Kharrat, Maher Riahi, Awatef Maazoul, Faouzi M'rad, Ridha Chaabouni, Habiba Producer: 20110822 In: Diagnostic molecular pathology : the American journal of surgical pathology, part B vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes. [electronic resource] by Mhamdi, Oussama Kharrat, Maher Mrad, Ridha Maazoul, Faouzi Chaabouni Bouhamed, Habiba Producer: 20111129 In: La Tunisie medicale vol. 89 Availability: No items available. Save to lists Add to cart (remove)
	4.	[Interest of studying subtelomeric abnormalities by in situ fluorescent hybridization to explore idiopathic mental retardation]. [electronic resource] by Hila, Lamia Ben Jemaa, Lamia Daoudi, Raja Maazoul, Faouzi Chaabouni, Habiba Producer: 20090623 In: La Tunisie medicale vol. 86 Availability: No items available. Save to lists Add to cart (remove)
	5.	A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia. [electronic resource] by Kharrat, Maher Tardy, Véronique M'rad, Ridha Maazoul, Faouzi Morel, Yves Chaabouni, Habiba Producer: 20060203 In: Diagnostic molecular pathology : the American journal of surgical pathology, part B vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family. [electronic resource] by Chograni, Manèl Alkuraya, Fowzan S Maazoul, Faouzi Lariani, Imen Chaabouni-Bouhamed, Habiba Producer: 20150324 In: Investigative ophthalmology & visual science vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. [electronic resource] by Chaabouni, Myriam Maazoul, Faouzi Ben Hamida, Amira Berhouma, Moncef Marrakchi, Zahra Chaabouni, Habiba Producer: 20080820 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation. [electronic resource] by Chograni, Manèl Chaabouni, Myriam Mâazoul, Faouzi Bouzid, Hedi Kraiem, Abdelhafid Chaabouni, Habiba B Bouhamed Producer: 20120306 In: BMC ophthalmology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	[Molecular diagnosis of fragile X syndrome]. [electronic resource] by Ben Jemaa, Lamia Khemir, Samah Maazoul, Faouzi Richard, Laurent Beldjord, Cherif Chaabouni, Myriam Chaabouni, Habiba Producer: 20090313 In: La Tunisie medicale vol. 86 Availability: No items available. Save to lists Add to cart (remove)
	10.	GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness. [electronic resource] by Trabelsi, Mediha Bahri, Wafa Habibi, Marwene Zainine, Rim Maazoul, Faouzi Ghazi, Besbes Chaabouni, Habiba Mrad, Ridha Producer: 20131213 In: International journal of pediatric otorhinolaryngology vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome. [electronic resource] by Halayem, Soumeyya Hamza, Mariem Maazoul, Faouzi Ben Turkia, Hadhemi Touati, Maissa Tebib, Neji Mrad, Ridha Bouden, Asma Producer: 20161213 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. [electronic resource] by Tajouri, Asma Ben Gaied, Dorsaf Hizem, Syrine Boujelben, Salma Maazoul, Faouzi M'rad, Ridha Poulat, Francis Kharrat, Maher Producer: 20180521 In: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. [electronic resource] by Smaoui, Nizar Beltaief, Omar BenHamed, Sonia M'Rad, Ridha Maazoul, Faouzi Ouertani, Amel Chaabouni, Habiba Hejtmancik, J Fielding Producer: 20040831 In: Investigative ophthalmology & visual science vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy. [electronic resource] by Trabelsi, Mediha Chelly, Imen Maazoul, Faouzi Chaabouni, Myriam Ouertani, Ines Kraoua, Lilia Khemakhem, Lamia Mrad, Ridha Chaabouni, Habiba Producer: 20130611 In: European journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	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. [electronic resource] by Kharrat, Maher Tardy, Véronique M'Rad, Ridha Maazoul, Faouzi Jemaa, Lamia Ben Refaï, Mohamed Morel, Yves Chaabouni, Habiba Producer: 20040211 In: The Journal of clinical endocrinology and metabolism vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]. [electronic resource] by Chaabouni, Myriam Fersi, Mounir Belghith, Neila Maazoul, Faouzi M'rad, Ridha Ben Jemaa, Lamia Gandoura, Najoua Chaabouni, Habiba Producer: 20080307 In: La Tunisie medicale vol. 85 Availability: No items available. Save to lists Add to cart (remove)
	17.	A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation. [electronic resource] by Rejeb, Imen Ben Jemaa, Lamia Abaied, Leila Kraoua, Lilia Saillour, Yoann Maazoul, Faouzi Chelly, Jamel Chaabouni, Habiba Producer: 20110928 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome. [electronic resource] by Kharrat, Maher Tajouri, Asma Nacef, Imen Ben Hizem, Cyrine Trabelsi, Mediha Maazoul, Faouzi M'rad, Ridha Chaabouni, Habiba Bouhamed Producer: 20200708 In: Steroids vol. 152 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	De novo trisomy 20p of paternal origin. [electronic resource] by Chaabouni, Myriam Turleau, Catherine Karboul, Lotfi Jemaa, Lamia Ben Maazoul, Faouzi Attié-Bitach, Tania Romana, Serge Chaabouni, Habiba Producer: 20070629 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report. [electronic resource] by Kraoua, Lilia Chaabouni, Myriam Ewers, Elisabeth Chelly, Imen Ouertani, Ines Ben Jemaa, Lamia Maazoul, Faouzi Liehr, Thomas Chaabouni, Habiba Producer: 20111031 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 26 results.