검색결과 : 7건
| No. | Article |
|---|---|
| 1 |
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 Alila-Fersi O, Tabebi M, Maalej M, Belguith N, Keskes L, Mkaouar-Rebai E, Fakhfakh F Biochemical and Biophysical Research Communications, 497(4), 1049, 2018 |
| 2 |
A novel TBX1 missense mutation in patients with syndromic congenital heart defects Jaouadi A, Tabebi M, Abdelhedi F, Abid D, Kamoun F, Chabchoub I, Maatoug S, Doukali H, Belghuith N, Ksentini MA, Keskes LA, Triki C, Hachicha M, Kamoun S, Kamoun H Biochemical and Biophysical Research Communications, 499(3), 563, 2018 |
| 3 |
Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening Alila-Fersi O, Chamkha I, Majdoub I, Gargouri L, Mkaouar-Rebai E, Tabebi M, Tlili A, Keskes L, Mahfoudh A, Fakhfakh F Biochemical and Biophysical Research Communications, 484(1), 71, 2017 |
| 4 |
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene Felhi R, Mkaouar-Rebai E, Sfaihi-Ben Mansour L, Alila-Fersi O, Tabebi M, Ben Rhouma B, Ammar M, Keskes L, Hachicha M, Fakhfakh F Biochemical and Biophysical Research Communications, 473(1), 61, 2016 |
| 5 |
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders Mkaouar-Rebai E, Felhi R, Tabebi M, Alila-Fersi O, Chamkha I, Maalej M, Ammar M, Kammoun F, Keskes L, Hachicha M, Fakhfakh F Biochemical and Biophysical Research Communications, 473(2), 578, 2016 |
| 6 |
Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene Ammar M, Tabebi M, Sfaihi L, Alila-Fersi O, Maalej M, Felhi R, Chabchoub I, Keskes L, Hachicha M, Fakhfakh F, Mkaouar-Rebai E Biochemical and Biophysical Research Communications, 474(4), 702, 2016 |
| 7 |
A novel mutation MT-COIII m.9267G > C and MT-COI m.5913G > A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with sever nephropathy Tabebi M, Mkaouar-Rebai E, Mnif M, Kallabi F, Ben Mahmoud A, Ben Saad W, Charfi N, Keskes-Ammar L, Kamoun H, Abid M, Fakhfakh F Biochemical and Biophysical Research Communications, 459(3), 353, 2015 |