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	1.	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)
	2.	Autism: an overview of genetic aetiology. [electronic resource] by Bayou, Nadia M'rad, Ridha Ahlem, B Béchir Helayem, Mohamed Chaabouni, Habiba Producer: 20090313 In: La Tunisie medicale vol. 86 Availability: No items available. Save to lists Add to cart (remove)
	3.	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)
	4.	Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome. [electronic resource] by Petit, François M Hébert, Marylise Gajdos, Vincent Capel, Liliane M'Rad, Ridha Labrune, Philippe Producer: 20090202 In: Haematologica vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family. [electronic resource] by Chaabouni, Myriam Smaoui, Nizar Benneji, Neila M'rad, Ridha Jemaa, Lamia Ben Hachicha, Slah Chaabouni, Habiba Producer: 20050526 In: Clinical dysmorphology vol. 14 Availability: No items available. Save to lists Add to cart (remove)
	6.	Exploring the 7p22.1 chromosome as a candidate region for autism. [electronic resource] by Bayou, Nadia Belhadj, Ahlem Daoud, Hussein Briault, Sylvain Helayem, M Bechir Chaabouni, Habiba M'rad, Ridha Producer: 20100727 In: Journal of biomedicine & biotechnology vol. 2010 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Protein partners of the calcium channel β subunit highlight new cellular functions. [electronic resource] by Rima, Mohamad Daghsni, Marwa Fajloun, Ziad M'rad, Ridha Brusés, Juan L Ronjat, Michel De Waard, Michel Producer: 20170515 In: The Biochemical journal vol. 473 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Autism throughout genetics: Perusal of the implication of ion channels. [electronic resource] by Daghsni, Marwa Rima, Mohamad Fajloun, Ziad Ronjat, Michel Brusés, Juan L M'rad, Ridha De Waard, Michel Producer: 20190501 In: Brain and behavior vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	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)
	10.	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)
	11.	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)
	12.	[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)
	13.	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)
	14.	Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation. [electronic resource] by Sakka, Rania Mahjoub, Bahri Kerkeni, Emna Werdani, Amina Boussoffara, Raoudha Ben Cheikh, Hassen M'rad, Ridha Sfar, Mohamed Taher Producer: 20190520 In: Pediatric blood & cancer vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. [electronic resource] by Tajouri, Asma Kharrat, Maher Hizem, Syrine Zaghdoudi, Hajer M'rad, Ridha Simic-Schleicher, Gunter Kaiser, Frank J Hiort, Olaf Werner, Ralf Producer: 20191007 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	The creatine transporter gene paralogous at 16p11.2 is expressed in human brain. [electronic resource] by Bayou, Nadia M'rad, Ridha Belhaj, Ahlem Daoud, Hussein Zemni, Ramzi Briault, Sylvain Helayem, M Béchir Ben Jemaa, Lamia Chaabouni, Habiba Producer: 20100630 In: Comparative and functional genomics p. 609684 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder. [electronic resource] by Bayou, Nadia M'rad, Ridha Belhaj, Ahlem Daoud, Hussein Ben Jemaa, Lamia Zemni, Ramzi Briault, Sylvain Helayem, M Bechir Chaabouni, Habiba Producer: 20080729 In: Journal of biomedicine & biotechnology vol. 2008 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	WDR73-related galloway mowat syndrome with collapsing glomerulopathy. [electronic resource] by El Younsi, Mariem Kraoua, Lilia Meddeb, Rym Ferjani, Maryem Trabelsi, Médiha Ouertani, Ines Maazoul, Faouzi Abid, Nabil Gargah, Tahar M'rad, Ridha Producer: 20200120 In: European journal of medical genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family]. [electronic resource] by Sakka, Rania Kerkeni, Emna Chaabouni, Myriam Chioukh, Fatma Zohra Ben Amor, Sofiène M'rad, Ridha Ben Yahia, Salim Chaabouni, Habiba Monastiri, Kamel Producer: 20151217 In: La Tunisie medicale vol. 93 Availability: No items available. Save to lists Add to cart (remove)
	20.	TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy? [electronic resource] by Daghsni, Marwa Lahbib, Saida Fradj, Mohamed Sayeb, Marwa Kelmemi, Wided Kraoua, Lilia Kchaou, Mariem Maazoul, Faouzi Echebbi, Slim Ben Ali, Nadia Abdelhak, Sonia M'rad, Ridha Producer: 20180419 In: Cytogenetic and genome research vol. 154 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 24 results.