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Chesneau, Bertrand
76
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Online (76)
Mediatypes
Articles (Online) (20)
OpenAccess-fulltext (56)
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english (65)
french (5)
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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. 194 (2024) 9 - p. , 2024
Link:
https://doi.org/10.1002/..
?
3
Health-related quality of life in children and adolescents ..:
Edouard, Thomas
;
Picot, Marie-Christine
;
Bajanca, Fernanda
...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
4
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/..
?
5
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/..
?
6
First evidence of SOX2 mutations in Peters' anomaly: Lesson..:
Chesneau, Bertrand
;
Aubert‐Mucca, Marion
;
Fremont, Félix
...
Clinical Genetics. 101 (2022) 5-6 - p. 494-506 , 2022
Link:
https://doi.org/10.1111/..
?
7
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/..
?
8
Cardiovascular and connective tissue disorder features in F..:
Billon, Clarisse
;
Adham, Salma
;
Hernandez Poblete, Natalia
...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
9
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/..
?
10
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/..
?
11
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/..
?
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
Clinical and genetic data of 22 new patients with SMAD3 pat..:
Chesneau, Bertrand
;
Edouard, Thomas
;
Dulac, Yves
...
Molecular Genetics & Genomic Medicine. 8 (2020) 5 - p. , 2020
Link:
https://doi.org/10.1002/..
?
14
Dual Signaling System with an Extended-Tetrathiafulvalene–P..:
Hardouin-Lerouge, Marie
;
Chesneau, Bertrand
;
Allain, Magali
.
The Journal of Organic Chemistry. 77 (2012) 5 - p. 2441-2445 , 2012
Link:
https://doi.org/10.1021/..
?
15
A Fused Donor−Acceptor System Based on an Extended Tetrathi..:
Chesneau, Bertrand
;
Hardouin-Lerouge, Marie
;
Hudhomme, Piétrick
Organic Letters. 12 (2010) 21 - p. 4868-4871 , 2010
Link:
https://doi.org/10.1021/..
1-15