E-LIB Suche - Ergebnisse für: Ben Mahmoud, Afif

1

Novel cases of Tunisian patients with mutations in the gene..:

Ben Rhouma, Bochra ; Kallabi, Fakhri ; Mahfoudh, Nadia...
The Journal of Steroid Biochemistry and Molecular Biology. 165 (2017) - p. 86-94 , 2017

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

2

Whole mitochondrial genome screening of a family with mater..:

Tabebi, Mouna ; Charfi, Nadia ; Kallabi, Fakhri...
Journal of Diabetes and its Complications. 31 (2017) 1 - p. 253-259 , 2017

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

3

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/..

4

Antagonist effects of Bacillus spp. strains against Fusariu..:

Zalila-Kolsi, Imen ; Ben Mahmoud, Afif ; Ali, Hacina...
Microbiological Research. 192 (2016) - p. 148-158 , 2016

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

5

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/..

6

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/..

7

A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG–..:

Kharrat, Marwa ; Hsairi, Ines ; Fendri-Kriaa, Nourhene...
Journal of Child Neurology. 30 (2015) 13 - p. 1715-1721 , 2015

Link: https://doi.org/10.1177/..

8

Identification of a novel m.9588G > A missense mutation in ..:

Baklouti-Gargouri, Siwar ; Ghorbel, Myriam ; Ben Mahmoud, Afif...
Journal of Assisted Reproduction and Genetics. 31 (2014) 5 - p. 595-600 , 2014

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

9

A novel m.6307A>G mutation in the mitochondrialCOXIgene in ..:

Baklouti-Gargouri, Siwar ; Ghorbel, Myriam ; Ben Mahmoud, Afif...
Molecular Reproduction and Development. 80 (2013) 7 - p. 581-587 , 2013

Link: https://doi.org/10.1002/..

10

First functional analysis of a novel splicing mutation in t..:

Ben Mahmoud, Afif ; Siala, Olfa ; Mansour, Riadh Ben...
Gene. 532 (2013) 1 - p. 13-17 , 2013

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

11

Mitochondrial DNA mutations and polymorphisms in asthenospe..:

Baklouti-Gargouri, Siwar ; Ghorbel, Myriam ; Ben Mahmoud, Afif...
Molecular Biology Reports. 40 (2013) 8 - p. 4705-4712 , 2013

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

12

Exome sequencing reveals neurodevelopmental genes in simple..:

Ghasemi, Mohammad-Reza ; Sadeghi, Hossein ; Hashemi-Gorji, Farzad...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

13

Macrocephaly and Digital Anomalies Expand the Phenotypic Sp..:

Susgun, Seda ; Ben-Mahmoud, Afif ; Rüschendorf, Franz...
Human Mutation. 2024 (2024) - p. 1-13 , 2024

Link: https://doi.org/10.1155/..

14

A cryptic microdeletion del(12)(p11.21p11.23) within an unb..:

Ben-Mahmoud, Afif ; Kishikawa, Shotaro ; Gupta, Vijay...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

15

Digenic or oligogenic mutations in presumed monogenic disor..:

Ben-Mahmoud, Afif ; Gupta, Vijay ; Kim, Cheol-Hee..
Journal of Genetic Medicine. 20 (2023) 1 - p. 15-24 , 2023

Link: https://doi.org/10.5734/..