E-LIB Suche - Ergebnisse für: Kamoun, Fatma

1

Customized targeted massively parallel sequencing enables t..:

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

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

2

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/..

3

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/..

4

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/..

5

Complex genotypes in family with metachromatic leukodystrop..:

Ben Issa, Abir ; Kamoun, Fatma ; Bouchaala, Wafa..
International Journal of Developmental Neuroscience. 84 (2023) 1 - p. 35-46 , 2023

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

6

Les hypersomnies de l'enfant : particularités cliniques et ..:

Fourati, Emna ; Ben Ncir, Sihem ; Bouchala, Wafa..
Revue Neurologique. 178 (2022) - p. S57 , 2022

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

7

Mutations dans le gène FOXG1 chez deux patients atteints du..:

Kharrat, Marwa ; Chahnez, Triki ; Kamoun, Fatma.
Revue Neurologique. 178 (2022) - p. S47-S48 , 2022

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

8

Combined in Silico Prediction Methods, Molecular Dynamic Si..:

Kharrat, Marwa ; Triki, Chahnez Charfi ; Alila-Fersi, Olfa...
Journal of Molecular Neuroscience. 72 (2022) 8 - p. 1695-1705 , 2022

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

9

Knowledge and attitudes toward epilepsy among people in Sfa..:

Charfi Triki, Chahnez ; Mguidich, Thouraya ; Bouchaala, Wafa...
Epilepsy & Behavior. 122 (2021) - p. 108151 , 2021

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

10

Peripheral neuropathy due to mitochondrial disorders in ped..:

Zouari, Rania ; Triki, Chahnez ; Bouchaala, Wafa..
Journal of the Neurological Sciences. 429 (2021) - p. 119365 , 2021

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

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

Opsoclonus myoclonus induced by lamotrigine toxicity:

Zouari, Rania ; Bouchaala, Wafa ; Nsir, Sihem Ben..
Seizure. 91 (2021) - p. 247-250 , 2021

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

13

Mitochondrial leucoencephalopathies: An under-diagnosed for..:

Zouari, Rania ; Triki, Chahnez ; Bouchaala, Wafa..
Journal of the Neurological Sciences. 429 (2021) - p. 119364 , 2021

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

14

Unusual double mutation in MECP2 and CDKL5 genes in Rett-li..:

Jdila, Marwa Ben ; Triki, Chahnez Charfi ; Ghorbel, Rania...
Clinica Chimica Acta. 508 (2020) - p. 287-294 , 2020

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

15

Les complications neurologiques de la maladie de CriglerNaj..:

Rania, Zouari ; Bouchaala, Wafa ; Ben Nsir, Sihem..
Revue Neurologique. 175 (2019) - p. S52 , 2019

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