E-LIB Suche - Ergebnisse für: Jihen Chouchen

1

Expanding the genetic and phenotypic spectrum of TRAPPC9 an..:

Kharrat, Marwa ; Triki, Chahnez ; ben isaa, Abir...
Journal of Human Genetics. , 2024

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

2

Genetic analysis of 106 sporadic cases with hearing loss in..:

Tlili, Abdelaziz ; Mahfood, Mona ; Al Mutery, Abdullah.
Human Genomics. 18 (2024) 1 - p. , 2024

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

3

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian D..:

Tlili, Abdelaziz ; Mutery, Abdullah Al ; Chouchen, Jihen
Genes. 15 (2024) 5 - p. 588 , 2024

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

4

Molecular and in silico investigation of a novel ECHS1 gene..:

Maalej, Marwa ; Sfaihi, Lamia ; Fersi, Olfa-Alila...
Metabolic Brain Disease. 39 (2024) 4 - p. 611-623 , 2024

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

5

Mitochondrial genes modulate the phenotypic expression of c..:

Alila-Fersi, Olfa ; Tej, Amel ; Maalej, Marwa...
Gene. 914 (2024) - p. 148388 , 2024

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

6

A Novel Mutation in the MAP7D3 Gene in Two Siblings with Se..:

Kharrat, Marwa ; Issa, Abir Ben ; Tlili, Abdelaziz...
Journal of Molecular Neuroscience. 73 (2023) 9-10 - p. 853-864 , 2023

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

7

Functional consequences of Genetics variant in TMC1 and TMC..:

Al Mutery, Abdullah ; Kamal Eldin Mohamed, Walaa ; Mahfood, Mona..
Saudi Journal of Biological Sciences. 30 (2023) 2 - p. 103520 , 2023

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

8

A novel thymidine phosphorylase mutation in a family with M..:

Ammar, Marwa ; Safi, Wajdi ; Tlili, Abdelaziz...
International Journal of Developmental Neuroscience. 82 (2022) 7 - p. 626-638 , 2022

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

9

Clinical heterogeneity of the SLC26A4 gene in UAE patients ..:

Chouchen, Jihen ; Mahfood, Mona ; Alobathani, Maryam..
International Journal of Pediatric Otorhinolaryngology. 140 (2021) - p. 110467 , 2021

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

10

Whole exome sequencing, in silico and functional studies co..:

Mahfood, Mona ; Chouchen, Jihen ; Kamal Eddine Ahmad Mohamed, Walaa...
Saudi Journal of Biological Sciences. 28 (2021) 8 - p. 4421-4429 , 2021

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

11

Genetic etiology of hereditary hearing loss in the Gulf Coo..:

Al Mutery, Abdullah ; Mahfood, Mona ; Chouchen, Jihen.
Human Genetics. , 2021

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

12

Functional consequences of Genetics variant in TMC1 and TMC..:

Abdullah Al Mutery ; Walaa Kamal Eldin Mohamed ; Mona Mahfood..
http://www.sciencedirect.com/science/article/pii/S1319562X22004363. , 2023

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

13

Whole exome sequencing, in silico and functional studies co..:

Mona Mahfood ; Jihen Chouchen ; Walaa Kamal Eddine Ahmad Mohamed...
http://www.sciencedirect.com/science/article/pii/S1319562X21002977. , 2021

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

14

Two new mutations, ESPN c.2257T>C and ESRRB c.10583 C>A, ca..:

Jihen Chouchen ; Abdelaziz Tlili
http://www.hamdanjournal.org/article.asp?issn=2227-2437;year=2020;volume=13;issue=2;spage=115;epage=119;aulast=Chouchen. , 2020

Link: https://doi.org/10.4103/..

15

Identification of a novel OXCT1 frameshift mutation by whol..:

Zamzam Yousef ; Mona Mahfood ; Jihen Chouchen..
http://www.hamdanjournal.org/article.asp?issn=2227-2437;year=2020;volume=13;issue=4;spage=222;epage=225;aulast=Yousef. , 2020

Link: https://doi.org/10.4103/..