검색결과 : 3건
| No. | Article |
|---|---|
| 1 |
A novel m.12908T > A mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease Chamkha I, Alila-Fersi O, Mkaouar-Rebai E, Aloulou H, Kifagi C, Hachicha M, Fakhfakh F Biochemical and Biophysical Research Communications, 429(1-2), 31, 2012 |
| 2 |
A novel m.3395A > G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A > G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N, Kammoun T, Hachicha M, Fakhfakh F Biochemical and Biophysical Research Communications, 404(1), 504, 2011 |
| 3 |
A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene Fendri-Kriaa N, Hsairi I, Kifagi C, Ellouze E, Mkaouar-Rebai E, Triki C, Fakhfakh F Biochemical and Biophysical Research Communications, 409(2), 270, 2011 |