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Cassinari, Kevin
73
results:
Search for persons
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Format
Online (73)
Mediatypes
Articles (Online) (23)
OpenAccess-fulltext (50)
Languages
english (68)
french (3)
Sorted by: Relevance
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?
1
Upstream open reading frame-introducing variants in patient..:
Rovelet-Lecrux, Anne
;
Bonnevalle, Antoine
;
Quenez, Olivier
...
European Journal of Human Genetics. 32 (2024) 7 - p. 779-785 , 2024
Link:
https://doi.org/10.1038/..
?
2
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/..
?
3
Phenotype and imaging features associated with APP duplicat..:
Grangeon, Lou
;
Charbonnier, Camille
;
Zarea, Aline
...
Alzheimer's Research & Therapy. 15 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
4
A postzygotic de novo NCDN mutation identified in a sporadi..:
Nicolas, Gaël
;
Sévigny, Myriam
;
Lecoquierre, François
...
Acta Neuropathologica Communications. 10 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
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
eP456: Heterozygous deletion of the VEGFC gene in 4q34.3 is..:
Huynh, Minh-Tuan
;
Degre, Sophie
;
Breon, Cathy
..
Genetics in Medicine. 24 (2022) 3 - p. S285-S287 , 2022
Link:
https://doi.org/10.1016/..
?
7
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/..
?
8
Recurrence of an early postzygotic rescue of an inherited u..:
Blanluet, Maud
;
Chantot‐Bastaraud, Sandra
;
Chambon, Pascal
...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 3057-3061 , 2021
Link:
https://doi.org/10.1002/..
?
9
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/..
?
10
Assessment of Multiplex Digital Droplet RT-PCR as a Diagnos..:
Cassinari, Kévin
;
Alessandri-Gradt, Elodie
;
Chambon, Pascal
...
Clinical Chemistry. 67 (2021) 5 - p. 736-741 , 2021
Link:
https://doi.org/10.1093/..
?
11
When a maternal heterozygous mutation of the CYP24A1 gene l..:
Hureaux, Marguerite
;
Chantot-Bastaraud, Sandra
;
Cassinari, Kévin
...
Molecular Cytogenetics. 14 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
12
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/..
?
13
Haploinsufficiency of the Primary Familial Brain Calcificat..:
Cassinari, Kévin
;
Rovelet‐Lecrux, Anne
;
Tury, Sandrine
...
Movement Disorders. 35 (2020) 8 - p. 1336-1345 , 2020
Link:
https://doi.org/10.1002/..
?
14
Rare genetic susceptibility variants assessment in autism s..:
Husson, Thomas
;
Lecoquierre, François
;
Cassinari, Kevin
...
Translational Psychiatry. 10 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1038/..
?
15
Simultaneous detection of EGFR amplification and EGFRvIII v..:
Fontanilles, Maxime
;
Marguet, Florent
;
Ruminy, Philippe
...
Acta Neuropathologica Communications. 8 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
1-15