E-LIB Suche - Ergebnisse für: Masmoudi, Saber

1

Functional analysis of MMR gene VUS from potential Lynch sy..:

Mahdouani, Marwa ; Zhuri, Drenushe ; Sezginer Guler, Hazal...
PLOS ONE. 19 (2024) 6 - p. e0304141 , 2024

Link: https://doi.org/10.1371/..

2

Case report: Functional analysis of the p.Arg507Trp variant..:

Ben Ayed, Ikhlas ; Jallouli, Olfa ; Murakami, Yoshiko...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

A new case with the recurrent PURA p.(Phe233del) pathogenic..:

Ben Issa, Abir ; Ben Ayed, Ikhlas ; Jallouli, Olfa...
International Journal of Developmental Neuroscience. 83 (2023) 4 - p. 383-395 , 2023

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

4

Customized targeted massively parallel sequencing enables t..:

Ben Said, Mariem ; Jallouli, Olfa ; Ben Aissa, Abir...
Epilepsia Open. , 2023

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

5

Genetic variants and altered expression of SERPINF1 confer ..:

Singh, Neha ; Hansdah, Kirtal ; Bouzid, Amal...
Journal of Human Genetics. 68 (2023) 9 - p. 635-642 , 2023

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

6

Short-term effects of various non-steroidal anti-inflammato..:

Chabchoubi, Imen Ben ; Bouchhima, Rim Attya ; Louhichi, Nacim...
MethodsX. 10 (2023) - p. 102215 , 2023

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

7

Cupressus sempervirens Essential Oil: Exploring the Antibac..:

Akermi, Sarra ; Smaoui, Slim ; Elhadef, Khaoula...
Molecules. 27 (2022) 9 - p. 2630 , 2022

Link: https://doi.org/10.3390/..

8

Genetic Association of rs1021188 and DNA Methylation Signat..:

Bouzid, Amal ; Chelly, Ameni ; Tekari, Adel...
Frontiers in Medicine. 9 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

9

Custom Next‐Generation Sequencing Identifies Novel Mutation..:

Said, Mariem Ben ; Ayed, Ikhlas Ben ; Elloumi, Ines...
Molecular Genetics & Genomic Medicine. 10 (2022) 2 - p. , 2022

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

10

Functional characterization of MLH1 missense variants unvei..:

Mahdouani, Marwa ; Ben Ahmed, Slim ; Hmila, Fahmi...
PLOS ONE. 17 (2022) 12 - p. e0278283 , 2022

Link: https://doi.org/10.1371/..

11

Genetic diagnosis in Sudanese and Tunisian families with sy..:

Yahia, Ashraf ; Ayed, Ikhlas Ben ; Hamed, Ahlam A....
Annals of Human Genetics. 86 (2022) 4 - p. 181-194 , 2022

Link: https://doi.org/10.1111/..

12

A Tunisian patient with CLCN2‐related leukoencephalopathy:

Ben Mohamed, Dina ; Saied, Zacharia ; Ben Sassi, Samia...
Clinical Case Reports. 10 (2022) 12 - p. , 2022

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

13

The risks of RELN polymorphisms and its expression in the d..:

Priyadarshi, Saurabh ; Hansdah, Kirtal ; Singh, Neha...
PLOS ONE. 17 (2022) 6 - p. e0269558 , 2022

Link: https://doi.org/10.1371/..

14

Evidence of SARS-CoV-2 symptomatic reinfection in four heal..:

Gargouri, Saba ; Souissi, Amal ; Abid, Nabil...
International Journal of Infectious Diseases. 117 (2022) - p. 146-154 , 2022

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

15

A potential oral microbiome signature associated with coron..:

Bouzid, Fériel ; Gtif, Imen ; Alfadhli, Suad...
Bioscience Reports. 42 (2022) 7 - p. , 2022

Link: https://doi.org/10.1042/..