E-LIB Suche - Ergebnisse für: Schalk, Audrey

1

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/..

2

Functional analysis of novel variants identified in cis in ..:

Martínez-Pizarro, Ainhoa ; Calmels, Nadège ; Schalk, Audrey...
Gene. 893 (2024) - p. 147902 , 2024

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

3

Recurrent familial case of early childhood sudden death: Co..:

Krebs-Drouot, Lila ; Schalk, Audrey ; Schaefer, Elise...
Forensic Science International: Genetics. 71 (2024) - p. 103028 , 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

Two Different PRKN Compound Heterozygous Variants Combinati..:

Biehler, Margaux ; Ravel, Jean‐Marie ; Tir, Mélissa..
Movement Disorders Clinical Practice. 10 (2023) 5 - p. 845-847 , 2023

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

6

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/..

7

Recessive NUP54 Variants Underlie Early‐Onset Dystonia with..:

Harrer, Philip ; Schalk, Audrey ; Shimura, Masaru...
Annals of Neurology. 93 (2022) 2 - p. 330-335 , 2022

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

8

Clinical and genomic delineation of the new proximal 19p13...:

Jouret, Guillaume ; Egloff, Matthieu ; Landais, Emilie...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 52-63 , 2022

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

9

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is..:

Zeitz, Christina ; Méjécase, Cécile ; Michiels, Christelle...
International Journal of Molecular Sciences. 22 (2021) 15 - p. 7875 , 2021

Link: https://doi.org/10.3390/..

10

AnnotSV and knotAnnotSV: a web server for human structural ..:

Geoffroy, Véronique ; Guignard, Thomas ; Kress, Arnaud...
Nucleic Acids Research. 49 (2021) W1 - p. W21-W28 , 2021

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

11

Deep intronic variation in splicing regulatory element of t..:

Schalk, Audrey ; Greff, Géraldine ; Drouot, Nathalie...
European Journal of Human Genetics. 26 (2018) 4 - p. 527-536 , 2018

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

12

Functional analysis of novel variants identified in cis in ..:

Martínez Pizarro, Ainhoa ; Calmels, Nadège ; Schalk, Audrey...
Gene. , 2023

Link: http://hdl.handle.net/10..

13

De novo coding variants in the AGO1 gene cause a neurodevel..:

SCHALK, Audrey ; COUSIN, Margot A ; DSOUZA, Nikita R...
https://oskar-bordeaux.fr/handle/20.500.12278/184714. , 2023

Link: https://oskar-bordeaux.f..

14

Recessive NUP54 Variants Underlie Early-Onset Dystonia with..:

Harrer, Philip ; Schalk, Audrey ; Shimura, Masaru...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ana.26544. , 2023

Link: https://hal.science/hal-..

15

Clinical and genomic delineation of the new proximal 19p13...:

JOURET, Guillaume ; EGLOFF, Matthieu ; LANDAIS, Emilie...
1552-4833. , 2023

Link: https://oskar-bordeaux.f..