E-LIB Suche - Ergebnisse für: Richard, Anne Claire

1

Contribution to Alzheimer's disease risk of rare variants i..:

Bellenguez, Céline ; Charbonnier, Camille ; Grenier-Boley, Benjamin...
Neurobiology of Aging. 59 (2017) - p. 220.e1-220.e9 , 2017

Link: https://doi.org/10.1016/..

2

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinem..:

Richard, Anne Claire ; Rovelet‐Lecrux, Anne ; Delaby, Elsa...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 171 (2016) 3 - p. 377-382 , 2016

Link: https://doi.org/10.1002/..

3

Biallelic NAA60 variants with impaired N-terminal acetylati..:

Chelban, Viorica ; Aksnes, Henriette ; Maroofian, Reza...
Nature Communications. 15 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

4

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/..

5

Assessment of the transcriptomic consequences and MAU2 prot..:

Cassinari, Kévin ; Rovelet-Lecrux, Anne ; Derambure, Céline...
Genes & Diseases. , 2024

Link: https://doi.org/10.1016/..

6

Assessment of Mendelian and risk-factor genes in Alzheimer ..:

Nicolas, Gaël ; Zaréa, Aline ; Lacour, Morgane...
Genetics in Medicine. 26 (2024) 5 - p. 101082 , 2024

Link: https://doi.org/10.1016/..

7

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
European Journal of Human Genetics. , 2023

Link: https://doi.org/10.1038/..

8

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/..

9

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/..

10

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/..

11

Biallelic MYORG mutation carriers exhibit primary brain cal..:

Grangeon, Lou ; Wallon, David ; Charbonnier, Camille...
Brain. 142 (2019) 6 - p. 1573-1586 , 2019

Link: https://doi.org/10.1093/..

12

Characterization of XPR1/SLC53A1 variants located outside o..:

López-Sánchez, Uriel ; Nicolas, Gaël ; Richard, Anne-Claire...
Scientific Reports. 9 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

13

Identification of potential genetic risk factors for bipola..:

Husson, Thomas ; Duboc, Jean-Baptiste ; Quenez, Olivier...
Translational Psychiatry. 8 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..

14

Primary brain calcification: an international study reporti..:

The French PFBC study group ; Ramos, Eliana Marisa ; Carecchio, Miryam...
European Journal of Human Genetics. 26 (2018) 10 - p. 1462-1477 , 2018

Link: https://doi.org/10.1038/..

15

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer di..:

Lanoiselée, Hélène-Marie ; Nicolas, Gaël ; Wallon, David...
PLOS Medicine. 14 (2017) 3 - p. e1002270 , 2017

Link: https://doi.org/10.1371/..