검색결과 : 6건
| No. | Article |
|---|---|
| 1 |
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 |
| 2 |
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 |
| 3 |
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 |
| 4 |
A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNA(Val) mutation Mezghani N, Mnif M, Kacem M, Mkaouar-Rebai E, Salem IH, Kallel N, Charfi N, Abid M, Fakhfakh F Biochemical and Biophysical Research Communications, 407(4), 747, 2011 |
| 5 |
The mitochondrial ND1 m.3337G > A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Salem IH, Charfi N, Abid M, Fakhfakh F Biochemical and Biophysical Research Communications, 411(2), 247, 2011 |
| 6 |
Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment Bhalla S, Sharma R, Khandelwal G, Panda NK, Khullar M Biochemical and Biophysical Research Communications, 385(3), 445, 2009 |