E-LIB Suche - Ergebnisse für: Bonnet, Crystel

1

Corrigendum: Current phenotypic and genetic spectrum of syn..:

Mkaouar, Rahma ; Riahi, Zied ; Marrakchi, Jihene...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

2

Biallelic variants in TMIE and PDE6B genes mimic Usher synd..:

Abdi, Samia ; Makrelouf, Mohamed ; Rous, Issa Nazim...
Gene Reports. 36 (2024) - p. 101954 , 2024

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

3

Genetic variation of TLR3 gene is associated with the outco..:

Soumbara, Tetou ; Bonnet, Crystel ; Hamed, Cheikh Tijani...
BMC Infectious Diseases. 24 (2024) 1 - p. , 2024

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

4

Current phenotypic and genetic spectrum of syndromic deafne..:

Mkaouar, Rahma ; Riahi, Zied ; Marrakchi, Jihene...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

5

Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Ass..:

AitRaise, Imane ; Amalou, Ghita ; Bakhchane, Amina...
Biochemical Genetics. 62 (2023) 3 - p. 1914-1924 , 2023

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

6

Novel pathogenic WHRN variant causing hearing loss in a mor..:

AitRaise, Imane ; Amalou, Ghita ; Redouane, Salaheddine...
Molecular Biology Reports. 50 (2023) 12 - p. 10663-10669 , 2023

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

7

Deafness: from genetic architecture to gene therapy:

Petit, Christine ; Bonnet, Crystel ; Safieddine, Saaïd
Nature Reviews Genetics. 24 (2023) 10 - p. 665-686 , 2023

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

8

Identification a novel pathogenic LRTOMT mutation in Maurit..:

Salame, Malak ; Bonnet, Crystel ; Moctar, Ely Cheikh Mohamed...
European Archives of Oto-Rhino-Laryngology. 280 (2023) 9 - p. 4057-4063 , 2023

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

9

Single-cell transcriptomic profiling of the mouse cochlea: ..:

Jean, Philippe ; Wong Jun Tai, Fabienne ; Singh-Estivalet, Amrit...
Proceedings of the National Academy of Sciences. 120 (2023) 26 - p. , 2023

Link: https://doi.org/10.1073/..

10

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB v..:

AitRaise, Imane ; Amalou, Ghita ; Bousfiha, Amale...
Molecular Biology Reports. 49 (2022) 5 - p. 3949-3954 , 2022

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

11

Screening of BRCA1/2 variants in Mauritanian breast cancer ..:

Brahim, Selma Mohamed ; Zein, Ekht Elbenina ; Bonnet, Crystel...
BMC Cancer. 22 (2022) 1 - p. , 2022

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

12

Retinal Phenotype of Patients withCLRN1-Associated Usher 3A..:

Smirnov, Vasily M. ; Nassisi, Marco ; Mohand-Saïd, Saddek...
Investigative Opthalmology & Visual Science. 63 (2022) 4 - p. 25 , 2022

Link: https://doi.org/10.1167/..

13

Alpha-mannosidosis in Tunisian consanguineous families: Pot..:

Mkaouar, Rahma ; Riahi, Zied ; Charfeddine, Cherine...
PLOS ONE. 16 (2021) 10 - p. e0258202 , 2021

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

14

Phylogenetic analysis of Harmonin homology domains:

Colcombet-Cazenave, Baptiste ; Druart, Karen ; Bonnet, Crystel...
BMC Bioinformatics. 22 (2021) 1 - p. , 2021

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

15

A homozygous MPZL2 deletion is associated with non syndromi..:

Amalou, Ghita ; Bonnet, Crystel ; Riahi, Zied...
International Journal of Pediatric Otorhinolaryngology. 140 (2021) - p. 110481 , 2021

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