E-LIB Suche - Ergebnisse für: Mkaouar-Rebai, Emna

1

Identification of a novel homozygous mutation in NAXE gene ..:

Maalej, Marwa ; Sfaihi, Lamia ; Ammar, Marwa...
neurogenetics. 23 (2022) 4 - p. 257-270 , 2022

Link: https://doi.org/10.1007/..

2

Mitochondrial disease patients with novel ND4 12058A > C an..:

Mkaouar-Rebai, Emna ; Ammar, Marwa ; Sfaihi, Lamia...
Molecular Biology Reports. , 2021

Link: https://doi.org/10.1007/..

3

A first description of ataxia with vitamin E deficiency ass..:

Maalej, Marwa ; Kammoun, Fatma ; Kharrat, Marwa...
Acta Neurologica Belgica. 121 (2020) 6 - p. 1733-1740 , 2020

Link: https://doi.org/10.1007/..

4

Mutations in aARS genes revealed by targeted next-generatio..:

Felhi, Rahma ; Charif, Majida ; Sfaihi, Lamia...
Molecular Biology Reports. 47 (2020) 5 - p. 3779-3787 , 2020

Link: https://doi.org/10.1007/..

5

Clinical, Molecular, and Computational Analysis in two case..:

Maalej, Marwa ; Tej, Amel ; Bouguila, Jihène...
Biochemical and Biophysical Research Communications. 495 (2018) 2 - p. 1730-1737 , 2018

Link: https://doi.org/10.1016/..

6

Cytochrome C oxydase deficiency: SURF1 gene investigation i..:

Maalej, Marwa ; Kammoun, Thouraya ; Alila-Fersi, Olfa...
Biochemical and Biophysical Research Communications. 497 (2018) 4 - p. 1043-1048 , 2018

Link: https://doi.org/10.1016/..

7

First description of a novel mitochondrial mutation in the ..:

Alila-Fersi, Olfa ; Tabebi, Mouna ; Maalej, Marwa...
Biochemical and Biophysical Research Communications. 497 (2018) 4 - p. 1049-1054 , 2018

Link: https://doi.org/10.1016/..

8

Do GSTM1 and GSTT1 polymorphisms influence the risk of deve..:

Ghorbel, Raouia ; Ben Salah, Ghada ; Ghorbel, Rania...
Environmental Science and Pollution Research. 25 (2017) 6 - p. 5779-5787 , 2017

Link: https://doi.org/10.1007/..

9

Co segregation of the m.1555A>G mutation in the MT-RNR1 gen..:

Alila-Fersi, Olfa ; Chamkha, Imen ; Majdoub, Imen...
Biochemical and Biophysical Research Communications. 484 (2017) 1 - p. 71-78 , 2017

Link: https://doi.org/10.1016/..

10

Mutational screening in patients with profound sensorineura..:

Ammar, Marwa ; Tabebi, Mouna ; Sfaihi, Lamia...
Biochemical and Biophysical Research Communications. 474 (2016) 4 - p. 702-708 , 2016

Link: https://doi.org/10.1016/..

11

Mutational analysis in patients with neuromuscular disorder..:

Felhi, Rahma ; Mkaouar-Rebai, Emna ; Sfaihi-Ben Mansour, Lamia...
Biochemical and Biophysical Research Communications. 473 (2016) 1 - p. 61-66 , 2016

Link: https://doi.org/10.1016/..

12

In silico investigation of the impact of synonymous variant..:

Khabou, Boudour ; Siala-Sahnoun, Olfa ; Gargouri, Lamia...
Computational Biology and Chemistry. 65 (2016) - p. 103-109 , 2016

Link: https://doi.org/10.1016/..

13

Mitochondrial DNA triplication and punctual mutations in pa..:

Mkaouar-Rebai, Emna ; Felhi, Rahma ; Tabebi, Mouna...
Biochemical and Biophysical Research Communications. 473 (2016) 2 - p. 578-585 , 2016

Link: https://doi.org/10.1016/..

14

A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mu..:

Tabebi, Mouna ; Mkaouar-Rebai, Emna ; Mnif, Mouna...
Biochemical and Biophysical Research Communications. 459 (2015) 3 - p. 353-360 , 2015

Link: https://doi.org/10.1016/..

15

Evaluation of the effect of c.2946+1G>T mutation on splicin..:

Ben Mahmoud, Afif ; Ben Mansour, Riadh ; Driss, Fatma...
Computational Biology and Chemistry. 54 (2015) - p. 44-48 , 2015

Link: https://doi.org/10.1016/..