E-LIB Suche - Ergebnisse für: Piton, Amélie

1

Modeling neurodevelopmental disorder-associated humanAGO1mu..:

Duan, Ye ; Li, Li ; Panzade, Ganesh Prabhakar...
Proceedings of the National Academy of Sciences. 121 (2024) 10 - p. , 2024

Link: https://doi.org/10.1073/..

2

Les variants faux-sens rares dans KCNJ10 sont associés aux ..:

Wirth, Thomas ; Flamand-Roze, Emmanuel ; Delvallée, Clarisse...
Revue Neurologique. 180 (2024) - p. S35 , 2024

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

3

Penetrance, variable expressivity and monogenic neurodevelo..:

de Masfrand, Servane ; Cogné, Benjamin ; Nizon, Mathilde...
European Journal of Medical Genetics. 69 (2024) - p. 104932 , 2024

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

4

Does Spinocerebellar ataxia 27B mimic cerebellar multiple s..:

Wirth, Thomas ; Bonnet, Céline ; Delvallée, Clarisse...
Journal of Neurology. 271 (2024) 4 - p. 2078-2085 , 2024

Link: https://doi.org/10.1007/..

5

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/..

6

Copy Number Variation and epilepsy: state of the art in the..:

Baer, Sarah ; Schalk, Audrey ; Miguet, Marguerite...
Pediatric Neurology. , 2024

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

7

DNA methylation episignature and comparative epigenomic pro..:

van der Laan, Liselot ; Lauffer, Peter ; Rooney, Kathleen...
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100289 , 2024

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

8

The ribose methylation enzyme FTSJ1 has a conserved role in..:

Brazane, Mira ; Dimitrova, Dilyana G ; Pigeon, Julien...
Life Science Alliance. 6 (2023) 4 - p. e202201877 , 2023

Link: https://doi.org/10.26508..

9

MAST1-related mega-corpus-callosum syndrome with central hy..:

Sloboda, Natacha ; Renard, Emeline ; Lambert, Laetitia...
European Journal of Medical Genetics. 66 (2023) 11 - p. 104853 , 2023

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

10

Natural History and Phenotypic Spectrum of GAA‐FGF14 Sporad..:

Wirth, Thomas ; Clément, Guillemette ; Delvallée, Clarisse...
Movement Disorders. 38 (2023) 10 - p. 1950-1956 , 2023

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

11

The neurodevelopmental and facial phenotype in individuals ..:

Aerden, Mio ; Denommé-Pichon, Anne-Sophie ; Bonneau, Dominique...
European Journal of Human Genetics. 31 (2023) 4 - p. 461-468 , 2023

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

12

O46: GenIDA, an international participatory database to bet..:

Burger, Pauline ; Colin, Florent ; Strehle, Axelle...
Genetics in Medicine Open. 1 (2023) 1 - p. 100699 , 2023

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

13

ANK2 loss-of-function variants are associated with epilepsy..:

Teunissen, Maria W A ; Lewerissa, Elly ; van Hugte, Eline J H...
Human Molecular Genetics. 32 (2023) 14 - p. 2373-2385 , 2023

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

14

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/..

15

Growth charts in DYRK1A syndrome:

Lanvin, Pierre‐Louis ; Goronflot, Thomas ; Isidor, Bertrand...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 9-16 , 2023

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