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Aubert‐Mucca, Marion
31  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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-..
 
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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-..
 
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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-..
 
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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-..
 
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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-..
 
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