Your search returned 24 results.

Results
	1.	An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene. [electronic resource] by Siala, Olfa Belguith, Neila Fakhfakh, Faiza Producer: 20140115 In: Iranian journal of pediatrics vol. 23 Availability: No items available. Save to lists Add to cart (remove)
	2.	First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene. [electronic resource] by Siala-Sahnoun, Olfa Dhieb, Dhoha Ben Thabet, Afef Hmida, Nedia Belguith, Neila Fakhfakh, Faiza Producer: 20161028 In: Molecular biology reports vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy. [electronic resource] by Alila-Fersi, Olfa Tabebi, Mouna Maalej, Marwa Belguith, Neila Keskes, Leila Mkaouar-Rebai, Emna Fakhfakh, Faiza Producer: 20180410 In: Biochemical and biophysical research communications vol. 497 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure. [electronic resource] by Siala, Olfa Belguith, Neila Kammoun, Hassen Kammoun, Bourane Hmida, Nedia Chabchoub, Imen Hchicha, Mongia Fakhfakh, Faiza Producer: 20121105 In: Gene vol. 507 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Novel double deletions in the MECP2 gene in Tunisian Rett patient. [electronic resource] by Fendri-Kriaa, Nourhene Rouissi, Aida Ghorbel, Rania Mkaouar-Rebai, Emna Belguith, Neila Gouider-Khouja, Naziha Fakhfakh, Faiza Producer: 20121001 In: Gene vol. 502 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases. [electronic resource] by Mkaouar-Rebai, Emna Tlili, Abdelaziz Masmoudi, Saber Belguith, Neila Charfeddine, Ilhem Mnif, Mouna Triki, Chahnez Fakhfakh, Faiza Producer: 20070417 In: Biochemical and biophysical research communications vol. 355 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients. [electronic resource] by Fendri-Kriaa, Nourhene Rouissi, Aida Ghorbel, Rania Mkaouar-Rebai, Emna Belguith, Neila Gouider-Khouja, Naziha Fakhfakh, Faiza Producer: 20120904 In: Journal of child neurology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. [electronic resource] by Abdelwahed, Mayssa Maaloul, Ines Benoit, Valerie Hilbert, Pascale Hachicha, Mongia Kamoun, Hassen Keskes-Ammar, Leila Belguith, Neila Producer: 20211021 In: Acta clinica Belgica vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	[Bardet - Biedl syndrome in the child. A study of 11 cases]. [electronic resource] by Aloulou, Hajer Cheikhrouhou, Hela Belguith, Neila Ben Ameur, Salma Ben Mansour, Lamia Chabchoub, Imen Kammoun, Thouraya Hachicha, Mongia Producer: 20110628 In: La Tunisie medicale vol. 89 Availability: No items available. Save to lists Add to cart (remove)
	10.	Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. [electronic resource] by Fendri-Kriaa, Nourhene Mkaouar-Rebai, Emna Moalla, Dorsaf Belguith, Neila Louhichi, Nacim Zemni, Ramzi Slama, Foued Triki, Chahnez Fakhfakh, Faiza Producer: 20110222 In: Journal of child neurology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome. [electronic resource] by Ben Mahmoud, Afif Siala, Olfa Mansour, Riadh Ben Driss, Fatma Baklouti-Gargouri, Siwar Mkaouar-Rebai, Emna Belguith, Neila Fakhfakh, Faiza Producer: 20131223 In: Gene vol. 532 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene. [electronic resource] by Abdelwahed, Mayssa Hilbert, Pascale Ahmed, Asma Mahfoudh, Hichem Bouomrani, Salem Dey, Mouna Hachicha, Jamil Kamoun, Hassen Keskes-Ammar, Leila Belguith, Neïla Producer: 20190705 In: Gene vol. 671 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations. [electronic resource] by Alila-Fersi, Olfa Aloulou, Hajer Werteni, Ines Mahfoudh, Nadia Chabchoub, Imen Kammoun, Hassen Keskes, Leila Hachicha, Mongia Belguith, Neila Fakhfakh, Faiza Producer: 20210121 In: Journal of molecular neuroscience : MN vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development. [electronic resource] by Engeli, Roger T Rhouma, Bochra Ben Sager, Christoph P Tsachaki, Maria Birk, Julia Fakhfakh, Faiza Keskes, Leila Belguith, Neila Odermatt, Alex Producer: 20160503 In: The Journal of steroid biochemistry and molecular biology vol. 155 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect. [electronic resource] by Ben Rhouma, Bochra Kallabi, Fakhri Mahfoudh, Nadia Ben Mahmoud, Afif Engeli, Roger T Kamoun, Hassen Keskes, Leila Odermatt, Alex Belguith, Neila Producer: 20170623 In: The Journal of steroid biochemistry and molecular biology vol. 165 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation. [electronic resource] by Ghorbel, Rania Ghorbel, Raouia Rouissi, Aida Fendri-Kriaa, Nourhene Ben Salah, Ghada Belguith, Neila Ammar-Keskes, Leila Gouider-Khouja, Neziha Fakhfakh, Faiza Producer: 20180323 In: Biochemical and biophysical research communications vol. 497 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect. [electronic resource] by Bougacha-Elleuch, Noura Charfi, Nadia Miled, Nabil Bouhajja, Houda Belguith, Neila Mnif, Mouna Jorge, Paula Chikhrouhou, Nessrine Ayadi, Hammadi Hachicha, Mongia Abid, Mohamed Producer: 20160826 In: European journal of pediatrics vol. 174 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect. [electronic resource] by Bougacha-Elleuch, Noura Charfi, Nadia Miled, Nabil Bouhajja, Houda Belguith, Neila Mnif, Mouna Jaurge, Paula Chikhrouhou, Nessrine Ayadi, Hammadi Hachicha, Mongia Abid, Mohamed Producer: 20160825 In: European journal of pediatrics vol. 174 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity. [electronic resource] by Ben Rhouma, Bochra Belguith, Neila Mnif, Mouna Feki Kamoun, Thouraya Charfi, Nadia Kamoun, Mahdi Abdelhedi, Fatma Hachicha, Mongia Kamoun, Hassen Abid, Mohamed Fakhfakh, Faiza Producer: 20140424 In: The journal of sexual medicine vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome. [electronic resource] by Abdelwahed, Mayssa Touraine, Renaud Ben-Rhouma, Bochra Dhieb, Dhoha Mars, Manel Kammoun, Khawla Hachicha, Jamil Triki, Chahnez Kamoun, Hassen Keskes-Ammar, Leila Belguith, Neila Producer: 20200707 In: IUBMB life vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 24 results.