E-LIB Suche - Ergebnisse für: Ayed, Ikhlas Ben

1

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/..

2

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/..

3

Case Report: Pre- and post-natal evolution of Kabuki Syndro..:

Souayeh, Nesrine ; MARZOUK, Asma ; Jelalia, Nour...
F1000Research. 13 (2024) - p. 406 , 2024

Link: https://doi.org/10.12688..

4

Customized targeted massively parallel sequencing enables t..:

Ben Said, Mariem ; Jallouli, Olfa ; Ben Aissa, Abir...
Epilepsia Open. , 2024

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

5

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/..

6

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/..

7

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/..

8

Evaluation of X chromosome inactivation in endemic Tunisian..:

Abida, Olfa ; Elloumi, Nesrine ; Bahloul, Emna...
Molecular Genetics & Genomic Medicine. 10 (2022) 12 - p. , 2022

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

9

SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and c..:

Ben Ayed, Ikhlas ; Ouarda, Wael ; Frikha, Fakher...
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1081-1090 , 2021

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

10

8q21.11 microdeletion syndrome: Delineation of HEY1 as a ca..:

Ben Ayed, Ikhlas ; Bouzid, Amal ; Kammoun, Fatma...
Molecular Genetics & Genomic Medicine. 9 (2021) 11 - p. , 2021

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

11

Further insights into the spectrum phenotype of TRAPPC9 and..:

Ben Ayed, Ikhlas ; Bouchaala, Wafa ; Bouzid, Amal...
European Journal of Medical Genetics. 64 (2021) 12 - p. 104373 , 2021

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

12

Molecular insights into MYO3A kinase domain variants explai..:

Souissi, Amal ; Abdelmalek Driss, Dorra ; Chakchouk, Imen...
Journal of Biomolecular Structure and Dynamics. 40 (2021) 21 - p. 10940-10951 , 2021

Link: https://doi.org/10.1080/..

13

Novel pathogenic mutations and further evidence for clinica..:

Souissi, Amal ; Ben Said, Mariem ; Ben Ayed, Ikhlas...
Journal of Advanced Research. 31 (2021) - p. 13-24 , 2021

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

14

Custom Next‐Generation Sequencing Identifies Novel Mutation..:

Said, Mariem Ben ; Ayed, Ikhlas Ben ; Elloumi, Ines...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830811/. , 2022

Link: http://www.ncbi.nlm.nih...

15

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

Ben Ayed, Ikhlas ; Jallouli, Olfa ; Murakami, Yoshiko...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10034188/. , 2023

Link: http://www.ncbi.nlm.nih...