E-LIB Suche - Ergebnisse für: Khabou, Boudour

1

Characterization of a missense variant in COG5 in a Tunisia..:

Khabou, Boudour ; Sahari, Umar Bin Mohamad ; ben Issa, Abir...
Journal of Human Genetics. , 2024

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

2

Exploring the role of vitamin D-VDR pathway in pemphigus fo..:

Tahri, Safa ; Elloumi, Nesrine ; Khabou, Boudour...
Archives of Dermatological Research. 316 (2024) 7 - p. , 2024

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

3

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/..

4

Molecular and computational characterization of ABCB11 and ..:

Khabou, Boudour ; Kallabi, Fakhri ; Abdelaziz, Rim Ben...
Annals of Human Genetics. 88 (2023) 3 - p. 194-211 , 2023

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

5

miRNA implication in the pathogenesis and the outcome of Tu..:

Khabou, Boudour ; Fakhfakh, Raouia ; Tahri, Safa...
Experimental Dermatology. 32 (2023) 7 - p. 1132-1142 , 2023

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

6

Characterization of a novel ABCC2 mutation in infantile Dub..:

Khabou, Boudour ; Hsairi, Manel ; Gargouri, Lamia...
Clinica Chimica Acta. 518 (2021) - p. 43-50 , 2021

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

7

A homozygous ABCB4 mutation causing an LPAC syndrome evolve..:

Khabou, Boudour ; Trigui, Ayman ; Boudawara, Tahya Sellami...
Clinica Chimica Acta. 495 (2019) - p. 598-605 , 2019

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

8

Potential dysfunctional effects of synonymous variants: Ins..:

Khabou, Boudour ; Tabebi, Mouna ; Siala‐Sahnoun, Olfa...
Annals of Human Genetics. 82 (2018) 6 - p. 457-468 , 2018

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

9

Phenotypic variability in Tunisian PFIC3 patients harboring..:

Khabou, Boudour ; Mahjoub, Bahri ; Barbu, Véronique...
Clinica Chimica Acta. 486 (2018) - p. 122-128 , 2018

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

10

Clinical, Molecular, and Computational Analysis Showed a No..:

Issa, Abir Ben ; Feki, Fatma Kammoun ; Jdila, Marwa Ben...
Journal of Molecular Neuroscience. 66 (2018) 1 - p. 17-25 , 2018

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

11

Clinical, Molecular, and Computational Analysis in two case..:

Maalej, Marwa ; Tej, Amel ; Bouguila, Jihène...
Biochemical and Biophysical Research Communications. 495 (2018) 2 - p. 1730-1737 , 2018

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

12

Novel mutations in the CDKL5 gene in complex genotypes asso..:

Jdila, Marwa Ben ; Issa, Abir Ben ; Khabou, Boudour...
Clinica Chimica Acta. 473 (2017) - p. 51-59 , 2017

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

13

Comparison of in silico prediction and experimental assessm..:

Khabou, Boudour ; Durand-Schneider, Anne-Marie ; Delaunay, Jean-Louis...
The International Journal of Biochemistry & Cell Biology. 89 (2017) - p. 101-109 , 2017

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

14

In silico investigation of the impact of synonymous variant..:

Khabou, Boudour ; Siala-Sahnoun, Olfa ; Gargouri, Lamia...
Computational Biology and Chemistry. 65 (2016) - p. 103-109 , 2016

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

15

Comparison of in silico prediction and experimental assessm..:

Khabou, Boudour ; Durand-Schneider, Anne-Marie ; Delaunay, Jean-Louis...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.biocel.2017.05.028. , 2017

Link: https://hal.sorbonne-uni..