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Drouot, Nathalie
137
results:
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Online (137)
Mediatypes
Articles (Online) (45)
OpenAccess-fulltext (92)
Languages
english (126)
french (8)
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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
Rare Missense Variants in KCNJ10 Are Associated with Paroxy..:
Wirth, Thomas
;
Roze, Emmanuel
;
Delvallée, Clarisse
...
Movement Disorders. 39 (2024) 5 - p. 897-905 , 2024
Link:
https://doi.org/10.1002/..
?
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
Molecular consequences of PQBP1 deficiency, involved in the..:
Courraud, Jérémie
;
Engel, Camille
;
Quartier, Angélique
...
Molecular Psychiatry. 29 (2023) 2 - p. 287-296 , 2023
Link:
https://doi.org/10.1038/..
?
5
De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dys..:
Wirth, Thomas
;
Méneret, Aurélie
;
Drouot, Nathalie
...
Movement Disorders. 37 (2022) 5 - p. 1115-1117 , 2022
Link:
https://doi.org/10.1002/..
?
6
De novo truncatingNOVA2variants affect alternative splicing..:
Scala, Marcello
;
Drouot, Nathalie
;
MacLennan, Suzanna C.
...
Human Mutation. 43 (2022) 9 - p. 1299-1313 , 2022
Link:
https://doi.org/10.1002/..
?
7
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/..
?
8
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/..
?
9
Highlighting the Dystonic Phenotype Related to GNAO1:
Wirth, Thomas
;
Garone, Giacomo
;
Kurian, Manju A.
...
Movement Disorders. 37 (2022) 7 - p. 1547-1554 , 2022
Link:
https://doi.org/10.1002/..
?
10
Systematic analysis and prediction of genes associated with..:
Leitão, Elsa
;
Schröder, Christopher
;
Parenti, Ilaria
...
Nature Communications. 13 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
11
Neuropathological hallmarks of fetal hydrocephalus linked t..:
Marguet, Florent
;
Vezain, Myriam
;
Marcorelles, Pascale
...
Acta Neuropathologica Communications. 9 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
12
Expanding the clinical spectrum of STIP1 homology and U-box..:
Ravel, Jean-Marie
;
Benkirane, Mehdi
;
Calmels, Nadège
...
Journal of Neurology. 268 (2021) 5 - p. 1927-1937 , 2021
Link:
https://doi.org/10.1007/..
?
13
Integrative approach to interpret DYRK1A variants, leading ..:
Courraud, Jérémie
;
Chater-Diehl, Eric
;
Durand, Benjamin
...
Genetics in Medicine. 23 (2021) 11 - p. 2150-2159 , 2021
Link:
https://doi.org/10.1038/..
?
14
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkins..:
Kim, Christine Y.
;
Wirth, Thomas
;
Hubsch, Cécile
...
Annals of Neurology. 89 (2020) 1 - p. 195-196 , 2020
Link:
https://doi.org/10.1002/..
?
15
Detection of copy-number variations from NGS data using rea..:
FREX Consortium
;
Quenez, Olivier
;
Cassinari, Kevin
...
European Journal of Human Genetics. 29 (2020) 1 - p. 99-109 , 2020
Link:
https://doi.org/10.1038/..
1-15