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Boussion, Simon
26
results:
Search for persons
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Format
Online (26)
Mediatypes
Articles (Online) (6)
OpenAccess-fulltext (20)
Languages
english (24)
french (1)
Sorted by: Relevance
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?
1
Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase..:
Bordeneuve‐Plante, Pauline
;
Boussion, Simon
;
Rama, Mélanie
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
?
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
Mandibular‐pelvic‐patellar syndrome is a novelPITX1‐related..:
Morel, Godelieve
;
Duhamel, Céline
;
Boussion, Simon
...
Human Mutation. 41 (2020) 9 - p. 1499-1506 , 2020
Link:
https://doi.org/10.1002/..
?
4
TAR syndrome: Clinical and molecular characterization of a ..:
Boussion, Simon
;
Escande, Fabienne
;
Jourdain, Anne‐Sophie
...
Human Mutation. 41 (2020) 7 - p. 1220-1225 , 2020
Link:
https://doi.org/10.1002/..
?
5
Multiplex targeted high‐throughput sequencing in a series o..:
Jourdain, Anne‐Sophie
;
Petit, Florence
;
Odou, Marie‐Françoise
...
Human Mutation. 41 (2019) 1 - p. 222-239 , 2019
Link:
https://doi.org/10.1002/..
?
6
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-..
?
7
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-..
?
8
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-..
?
9
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-..
?
10
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-..
?
11
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-..
?
12
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-..
?
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