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Coutant, Sophie
221
results:
Search for persons
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Format
Online (220)
Print (1)
Mediatypes
Books (1)
Articles (Online) (70)
OpenAccess-fulltext (150)
Languages
french (4)
english (211)
Sorted by: Relevance
Sorted by: Year
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1
Assessment of parental mosaicism rates in neurodevelopmenta..:
Lecoquierre, François
;
Cassinari, Kévin
;
Drouot, Nathalie
...
Scientific Reports. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
2
Genome-wide expression analysis in a Fabry disease human po..:
Snanoudj, Sarah
;
Derambure, Céline
;
Zhang, Cheng
...
Heliyon. 10 (2024) 14 - p. e34357 , 2024
Link:
https://doi.org/10.1016/..
?
3
High diagnostic potential of short and long read genome seq..:
Lecoquierre, François
;
Quenez, Olivier
;
Fourneaux, Steeve
...
Human Genetics. 142 (2023) 6 - p. 773-783 , 2023
Link:
https://doi.org/10.1007/..
?
4
Disequilibrium between BRCA1 and BRCA2 Circular and Messeng..:
Levacher, Corentin
;
Viennot, Mathieu
;
Drouet, Aurélie
...
Cancers. 15 (2023) 7 - p. 2176 , 2023
Link:
https://doi.org/10.3390/..
?
5
Retrotransposon insertion as a novel mutational cause of sp..:
Vezain, Myriam
;
Thauvin-Robinet, Christel
;
Vial, Yoann
...
Human Genetics. 142 (2022) 1 - p. 125-138 , 2022
Link:
https://doi.org/10.1007/..
?
6
Detecting inversions in routine molecular diagnosis in MMR ..:
Kasper, Edwige
;
Coutant, Sophie
;
Manase, Sandrine
...
Familial Cancer. 21 (2022) 4 - p. 423-428 , 2022
Link:
https://doi.org/10.1007/..
?
7
Genome Alert!: A standardized procedure for genomic variant..:
Yauy, Kevin
;
Lecoquierre, François
;
Baert-Desurmont, Stéphanie
...
Genetics in Medicine. 24 (2022) 6 - p. 1316-1327 , 2022
Link:
https://doi.org/10.1016/..
?
8
Contribution of DNA methylation profiling to the reclassifi..:
Coursimault, Juliette
;
Goldenberg, Alice
;
Nicolas, Gaël
...
European Journal of Medical Genetics. 65 (2022) 9 - p. 104556 , 2022
Link:
https://doi.org/10.1016/..
?
9
Deep intronicNIPBL de novomutations and differential diagno..:
Coursimault, Juliette
;
Cassinari, Kévin
;
Lecoquierre, François
...
Human Mutation. 43 (2022) 12 - p. 1882-1897 , 2022
Link:
https://doi.org/10.1002/..
?
10
uORF‐introducing variants in the 5′UTR of theNIPBLgene as a..:
Coursimault, Juliette
;
Rovelet‐Lecrux, Anne
;
Cassinari, Kévin
...
Human Mutation. 43 (2022) 9 - p. 1239-1248 , 2022
Link:
https://doi.org/10.1002/..
?
11
Postoperative circulating tumor DNA detection is associated..:
Grancher, Adrien
;
Beaussire, Ludivine
;
Manfredi, Sylvain
...
Frontiers in Oncology. 12 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
12
New Insights into Plant Extracellular DNA. A Study in Soybe..:
Chambard, Marie
;
Plasson, Carole
;
Derambure, Céline
...
Cells. 10 (2021) 1 - p. 69 , 2021
Link:
https://doi.org/10.3390/..
?
13
TRIM33 gene somatic mutations identified by next generation..:
Cordel, Nadège
;
Derambure, Céline
;
Coutant, Sophie
...
Rheumatology. 60 (2021) 12 - p. 5863-5867 , 2021
Link:
https://doi.org/10.1093/..
?
14
NGLY1 Deficiency: A Rare Newly Described Condition with a T..:
Dabaj, Ivana
;
Sudrié-Arnaud, Bénédicte
;
Lecoquierre, François
...
Life. 11 (2021) 3 - p. 187 , 2021
Link:
https://doi.org/10.3390/..
?
15
Exome sequencing identifies the first genetic determinants ..:
Lecoquierre, François
;
Brehin, Anne‐Claire
;
Coutant, Sophie
...
Human Mutation. 41 (2020) 5 - p. 926-933 , 2020
Link:
https://doi.org/10.1002/..
1-15
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Neue Soziale Bewegungen Allgemein -- Frankreich