I agree that this site is using cookies. You can find further informations here.
X
Vera, Gabriella
435  results:
Search for persons X
?
1

uORF‐introducing variants in the 5′UTR of theNIPBLgene as a..:

Coursimault, Juliette ; Rovelet‐Lecrux, Anne ; Cassinari, Kévin...
Human Mutation.  43 (2022)  9 - p. 1239-1248 , 2022
Link: https://doi.org/10.1002/..
 
?
2

Deep intronicNIPBL de novomutations and differential diagno..:

Coursimault, Juliette ; Cassinari, Kévin ; Lecoquierre, François...
Human Mutation.  43 (2022)  12 - p. 1882-1897 , 2022
Link: https://doi.org/10.1002/..
 
?
3

Recurrence of an early postzygotic rescue of an inherited u..:

Blanluet, Maud ; Chantot‐Bastaraud, Sandra ; Chambon, Pascal...
American Journal of Medical Genetics Part A.  185 (2021)  10 - p. 3057-3061 , 2021
Link: https://doi.org/10.1002/..
 
?
4

Natural history of NF1 c.2970_2972del p.(Met992del): confir..:

Forde, Claire ; Burkitt-Wright, Emma ; Turnpenny, Peter D....
European Journal of Human Genetics.  30 (2021)  3 - p. 291-297 , 2021
Link: https://doi.org/10.1038/..
 
?
5

Clinical and molecular description of 19 patients with GATA..:

Vera, Gabriella ; Sorlin, Arthur ; Delplancq, Geoffroy...
European Journal of Medical Genetics.  63 (2020)  10 - p. 104004 , 2020
Link: https://doi.org/10.1016/..
 
?
6

X-linked primary ciliary dyskinesia due to mutations in the..:

Olcese, Chiara ; Patel, Mitali P. ; Shoemark, Amelia...
Nature Communications.  8 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
?
7

RAG2 and XLF/Cernunnos interplay reveals a novel role for t..:

Lescale, Chloé ; Abramowski, Vincent ; Bedora-Faure, Marie...
Nature Communications.  7 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
?
8

Stepwise Development of MAIT Cells in Mouse and Human:

Martin, Emmanuel ; Treiner, Emmanuel ; Duban, Livine...
PLoS Biology.  7 (2009)  3 - p. e1000054 , 2009
Link: https://doi.org/10.1371/..
 
?
9

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x.  , 2024
Link: https://univ-rennes.hal...
 
?
10

De novo coding variants in the AGO1 gene cause a neurodevel..:

SCHALK, Audrey ; COUSIN, Margot A ; DSOUZA, Nikita R...
https://oskar-bordeaux.fr/handle/20.500.12278/184714.  , 2023
Link: https://oskar-bordeaux.f..
 
?
11

Prenatal diagnosis by trio exome sequencing in fetuses with..:

Tran Mau-Them, Frédéric ; Delanne, Julian ; Denommé-Pichon, Anne-Sophie...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fgene.2023.1099995.  , 2023
Link: https://normandie-univ.h..
 
?
12

Prenatal diagnosis by trio exome sequencing in fetuses with..:

Tran Mau-Them, Frédéric ; Delanne, Julian ; Denommé-Pichon, Anne-Sophie...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fgene.2023.1099995.  , 2023
Link: https://normandie-univ.h..
 
?
13

Prenatal diagnosis by trio exome sequencing in fetuses with..:

Tran Mau-Them, Frédéric ; Delanne, Julian ; Denommé-Pichon, Anne-Sophie...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fgene.2023.1099995.  , 2023
Link: https://normandie-univ.h..
 
?
14

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x.  , 2023
Link: https://univ-rennes.hal...
 
?
15

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x.  , 2023
Link: https://univ-rennes.hal...
 
1-15