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Aubert‐Mucca, Marion
31
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Online (31)
Mediatypes
Articles (Online) (10)
OpenAccess-fulltext (21)
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1
Clinical heterogeneity of NADSYN1‐associated VCRL syndrome:
Aubert‐Mucca, Marion
;
Janel, Caroline
;
Porquet‐Bordes, Valérie
...
Clinical Genetics. 104 (2023) 1 - p. 114-120 , 2023
Link:
https://doi.org/10.1111/..
?
2
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/..
?
3
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/..
?
4
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/..
?
5
WNT11, a new gene associated with early onset osteoporosis,..:
Caetano da Silva, Caroline
;
Edouard, Thomas
;
Fradin, Melanie
...
Human Molecular Genetics. 31 (2021) 10 - p. 1622-1634 , 2021
Link:
https://doi.org/10.1093/..
?
6
Case Report: Successful Cerebral Revascularization and Card..:
Pyra, Pierrick
;
Darcourt, Jean
;
Aubert-Mucca, Marion
...
Frontiers in Neurology. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
7
Prenatal features and neonatal management of severe hyperpa..:
Aubert-Mucca, Marion
;
Dubucs, Charlotte
;
Groussolles, Marion
...
Bone Reports. 15 (2021) - p. 101097 , 2021
Link:
https://doi.org/10.1016/..
?
8
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/..
?
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. 303 , 2021
Link:
https://doi.org/10.1016/..
?
10
Confirmation of FZD5 implication in a cohort of 50 patients..:
Aubert-Mucca, Marion
;
Pernin-Grandjean, Julie
;
Marchasson, Sébastien
...
European Journal of Human Genetics. 29 (2020) 1 - p. 131-140 , 2020
Link:
https://doi.org/10.1038/..
?
11
A +3 variant at a donor splice site leads to a skipping of ..:
Chesneau, Bertrand
;
Plancke, Aurélie
;
Rolland, Guillaume
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.1814. , 2021
Link:
https://hal.science/hal-..
?
12
A +3 variant at a donor splice site leads to a skipping of ..:
Chesneau, Bertrand
;
Plancke, Aurélie
;
Rolland, Guillaume
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.1814. , 2021
Link:
https://hal.science/hal-..
?
13
First evidence of SOX2 mutations in Peters' anomaly: Lesson..:
Chesneau, Bertrand
;
Aubert-Mucca, Marion
;
Fremont, Felix
...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14123. , 2022
Link:
https://hal.science/hal-..
?
14
First evidence of SOX2 mutations in Peters' anomaly: Lesson..:
Chesneau, Bertrand
;
Aubert-Mucca, Marion
;
Fremont, Felix
...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14123. , 2022
Link:
https://hal.science/hal-..
?
15
First evidence of SOX2 mutations in Peters' anomaly: Lesson..:
Chesneau, Bertrand
;
Aubert-Mucca, Marion
;
Fremont, Felix
...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14123. , 2022
Link:
https://hal.science/hal-..
1-15