E-LIB Suche - Ergebnisse für: Kevin Cassinari

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/..