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

Structural Variant Disrupting the Expression of the Remote ..:

Plaisancié, Julie ; Chesneau, Bertrand ; Fares-Taie, Lucas...
International Journal of Molecular Sciences.  25 (2024)  5 - p. 2669 , 2024
Link: https://doi.org/10.3390/..
 
?
2

ITPR1: The missing gene in miosis–ataxia syndrome?:

Chesneau, Bertrand ; Calvas, Patrick ; Cassagne, Myriam...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
?
3

Minigene Splicing Assays and Long-Read Sequencing to Unrave..:

Tamayo, Alejandra ; Núñez-Moreno, Gonzalo ; Ruiz, Carolina...
International Journal of Molecular Sciences.  24 (2023)  2 - p. 1562 , 2023
Link: https://doi.org/10.3390/..
 
?
4

Correction: Clinical and genetic analysis further delineate..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
European Journal of Human Genetics.  31 (2023)  10 - p. 1196-1198 , 2023
Link: https://doi.org/10.1038/..
 
?
5

Clinical and functional heterogeneity associated with the d..:

Caron, Véronique ; Chassaing, Nicolas ; Ragge, Nicola...
Genetics in Medicine.  25 (2023)  8 - p. 100856 , 2023
Link: https://doi.org/10.1016/..
 
?
6

First implication of MIP in bilateral microphthalmia with p..:

Santorini, Mélissa ; Chesneau, Bertrand ; Koskas‐Boublil, Patricia...
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1373-1377 , 2023
Link: https://doi.org/10.1002/..
 
?
7

Clinical and genetic analysis further delineates the phenot..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
European Journal of Human Genetics.  31 (2023)  10 - p. 1175-1180 , 2023
Link: https://doi.org/10.1038/..
 
?
8

EPHA2 biallelic disruption causes syndromic complex microph..:

Courdier, Cécile ; Gemahling, Anna ; Guindolet, Damien...
European Journal of Medical Genetics.  65 (2022)  10 - p. 104574 , 2022
Link: https://doi.org/10.1016/..
 
?
9

Individuals with heterozygous variants in the Wnt-signallin..:

Holt, Richard ; Goudie, David ; Verde, Alejandra Damián...
Ophthalmic Genetics.  43 (2022)  6 - p. 809-816 , 2022
Link: https://doi.org/10.1080/..
 
?
10

Correction to: Evaluation of somatic and/or germline mosaic..:

Chesneau, Bertrand ; Ivashchenko, Véronique ; Habib, Christophe...
European Journal of Human Genetics.  31 (2022)  5 - p. 607-607 , 2022
Link: https://doi.org/10.1038/..
 
?
11

Evaluation of somatic and/or germline mosaicism in congenit..:

Chesneau, Bertrand ; Ivashchenko, Véronique ; Habib, Christophe...
European Journal of Human Genetics.  31 (2022)  5 - p. 526-530 , 2022
Link: https://doi.org/10.1038/..
 
?
12

Impact of genotype on the progression of aortic disease in ..:

Vincent, Rémi ; Bajanca, Fernanda ; Edouard, Thomas...
Archives of Cardiovascular Diseases Supplements.  13 (2021)  4 - p. 303 , 2021
Link: https://doi.org/10.1016/..
 
?
13

Impact of genotype on the progression of aortic disease in ..:

Vincent, Rémi ; Bajanca, Fernanda ; Edouard, Thomas...
Archives of Cardiovascular Diseases Supplements.  13 (2021)  4 - p. 326 , 2021
Link: https://doi.org/10.1016/..
 
?
14

Parental mosaicism in Marfan and Ehlers–Danlos syndromes an..:

Chesneau, Bertrand ; Plancke, Aurélie ; Rolland, Guillaume...
European Journal of Human Genetics.  29 (2021)  5 - p. 771-779 , 2021
Link: https://doi.org/10.1038/..
 
?
15

A +3 variant at a donor splice site leads to a skipping of ..:

Chesneau, Bertrand ; Plancke, Aurélie ; Rolland, Guillaume...
Molecular Genetics & Genomic Medicine.  9 (2021)  11 - p. , 2021
Link: https://doi.org/10.1002/..
 
1-15