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Coursimault, Juliette
32
results:
Search for persons
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Format
Online (32)
Mediatypes
Articles (Online) (10)
OpenAccess-fulltext (22)
Languages
english (28)
french (4)
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?
1
Lessons from two series by physicians and caregivers' self‐..:
Ruault, Valentin
;
Burger, Pauline
;
Gradels‐Hauguel, Johanna
...
Molecular Genetics & Genomic Medicine. 12 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1002/..
?
2
Unsuspected consequences of synonymous and missense variant..:
Michaud, Vincent
;
Sequeira, Angèle
;
Mercier, Elina
...
Pigment Cell & Melanoma Research. , 2023
Link:
https://doi.org/10.1111/..
?
3
2p25.3 microduplications involving MYT1L: further phenotypi..:
Bouassida, Malek
;
Egloff, Matthieu
;
Levy, Jonathan
...
European Journal of Human Genetics. 31 (2023) 8 - p. 895-904 , 2023
Link:
https://doi.org/10.1038/..
?
4
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/..
?
5
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/..
?
6
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/..
?
7
MYT1L-associated neurodevelopmental disorder: description o..:
Coursimault, Juliette
;
Guerrot, Anne-Marie
;
Morrow, Michelle M.
...
Human Genetics. 141 (2021) 1 - p. 65-80 , 2021
Link:
https://doi.org/10.1007/..
?
8
Hypersociability associated with developmental delay, macro..:
Coursimault, Juliette
;
Lecoquierre, François
;
Saugier-Veber, Pascale
...
European Journal of Medical Genetics. 64 (2021) 4 - p. 104166 , 2021
Link:
https://doi.org/10.1016/..
?
9
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/..
?
10
Discordances multiples entre dépistage de la trisomie 21 su..:
Cassinari, Kévin
;
Joly-Helas, Géraldine
;
Le Meur, Nathalie
...
Morphologie. 103 (2019) 342 - p. 85-86 , 2019
Link:
https://doi.org/10.1016/..
?
11
Lessons from two series by physicians and caregivers' self‐..:
Ruault, Valentin
;
Burger, Pauline
;
Gradels‐Hauguel, Johanna
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10801341/. , 2024
Link:
http://www.ncbi.nlm.nih...
?
12
2p25.3 microduplications involving MYT1L: further phenotypi..:
Bouassida, Malek
;
Egloff, Matthieu
;
Levy, Jonathan
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01379-9. , 2023
Link:
https://hal.science/hal-..
?
13
2p25.3 microduplications involving MYT1L: further phenotypi..:
Bouassida, Malek
;
Egloff, Matthieu
;
Levy, Jonathan
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01379-9. , 2023
Link:
https://hal.science/hal-..
?
14
2p25.3 microduplications involving MYT1L: further phenotypi..:
Bouassida, Malek
;
Egloff, Matthieu
;
Levy, Jonathan
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01379-9. , 2023
Link:
https://hal.science/hal-..
?
15
2p25.3 microduplications involving MYT1L: further phenotypi..:
Bouassida, Malek
;
Egloff, Matthieu
;
Levy, Jonathan
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01379-9. , 2023
Link:
https://hal.science/hal-..
1-15
