E-LIB Suche - Ergebnisse für: Vaché, Christel

1

Validation of Nanopore long-read sequencing to resolve RPGR..:

Vaché, Christel ; Faugère, Valérie ; Baux, David...
European Journal of Human Genetics. , 2024

2

Functional analysis of germline VANGL2 variants using rescu..:

Derrick, Christopher J ; Szenker-Ravi, Emmanuelle ; Santos-Ledo, Adrian...
Human Molecular Genetics. 33 (2023) 2 - p. 150-169 , 2023

Link: https://doi.org/10.1093/..

3

Identification and in vivo functional investigation of a HO..:

Vaché, Christel ; Cubedo, Nicolas ; Mansard, Luke...
European Journal of Human Genetics. 31 (2023) 7 - p. 834-840 , 2023

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

4

Generation of a human iPSC line, INMi005-A, from a patient ..:

Sanjurjo-Soriano, Carla ; Erkilic, Nejla ; Vache, Christel...
Stem Cell Research. 60 (2022) - p. 102738 , 2022

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

5

Identification of the First Single GSDME Exon 8 Structural ..:

Mansard, Luke ; Vaché, Christel ; Bianchi, Julie...
Diagnostics. 12 (2022) 1 - p. 207 , 2022

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

6

The Study of a 231 French Patient Cohort Significantly Exte..:

Mansard, Luke ; Baux, David ; Vaché, Christel...
International Journal of Molecular Sciences. 22 (2021) 24 - p. 13294 , 2021

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

7

Reclassification of a TMC1 synonymous substitution as a var..:

Vaché, Christel ; Baux, David ; Bianchi, Julie...
European Journal of Human Genetics. 30 (2021) 1 - p. 34-41 , 2021

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

8

When Familial Hearing Loss Means Genetic Heterogeneity: A M..:

Cenni, Camille ; Mansard, Luke ; Blanchet, Catherine...
Diagnostics. 11 (2021) 9 - p. 1636 , 2021

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

9

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PC..:

Vaché, Christel ; Puechberty, Jacques ; Faugère, Valérie...
Frontiers in Genetics. 11 (2020) - p. , 2020

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

10

SLC12A2 variants cause a neurodevelopmental disorder or coc..:

McNeill, Alisdair ; Iovino, Emanuela ; Mansard, Luke...
Brain. 143 (2020) 8 - p. 2380-2387 , 2020

Link: https://doi.org/10.1093/..

11

Antisense Oligonucleotide-based Splice Correction for USH2A..:

Slijkerman, Radulfus WN ; Vaché, Christel ; Dona, Margo...
Molecular Therapy - Nucleic Acids. 5 (2016) - p. e381 , 2016

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

12

Experience of targeted Usher exome sequencing as a clinical..:

Besnard, Thomas ; García‐García, Gema ; Baux, David...
Molecular Genetics & Genomic Medicine. 2 (2013) 1 - p. 30-43 , 2013

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

13

A potential genomic biomarker for the detection of polycycl..:

Vache, Christel ; Camares, Olivier ; Marie‐Céleste...
Environmental Toxicology and Chemistry. 26 (2007) 7 - p. 1418-1424 , 2007

Link: https://doi.org/10.1897/..

14

Drosophila melanogaster P‐glycoprotein: A membrane detoxifi..:

Vaché, Christel ; Camares, Olivier ; De Graeve, Fabienne...
Environmental Toxicology and Chemistry. 25 (2006) 2 - p. 572-580 , 2006

Link: https://doi.org/10.1897/..

15

Natural antisense transcripts of hypoxia-inducible factor 1..:

Rossignol, Fabrice ; Vaché, Christel ; Clottes, Eric
Gene. 299 (2002) 1-2 - p. 135-140 , 2002

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