E-LIB Suche - Ergebnisse für: Aubert‐Mucca, Marion

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

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

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...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606209/. , 2021

Link: http://www.ncbi.nlm.nih...

13

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-..

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-..