E-LIB Suche - Ergebnisse für: Barth, Magalie

1

Emerging variants, unique phenotypes, and transcriptomic si..:

Cavestro, Chiara ; Morra, Francesca ; Legati, Andrea...
Annals of Clinical and Translational Neurology. 11 (2024) 6 - p. 1615-1629 , 2024

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

2

Missense variants in ANO4 cause sporadic encephalopathic or..:

Yang, Fang ; Begemann, Anais ; Reichhart, Nadine...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1184-1205 , 2024

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

3

Diagnosis of tuberous sclerosis in the prenatal period: a r..:

Milon, Vincent ; Malinge, Marie-Claire ; Blanluet, Maud...
European Journal of Human Genetics. , 2024

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

4

Correction: Diagnosis of tuberous sclerosis in the prenatal..:

Milon, Vincent ; Malinge, Marie-Claire ; Blanluet, Maud...
European Journal of Human Genetics. , 2024

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

5

Ketogenic diet enhances the anti-cancer effects of PD-L1 bl..:

Richard, Jeremy ; Beauvillain, Céline ; Benoit, Maxime...
Frontiers in Endocrinology. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

6

Systemic primary carnitine deficiency induces severe arrhyt..:

Lodewyckx, Pierre ; Issa, Jean ; Gaschignard, Margaux...
Molecular Genetics and Metabolism. 140 (2023) 4 - p. 107733 , 2023

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

7

TEFM variants impair mitochondrial transcription causing ch..:

Van Haute, Lindsey ; O'Connor, Emily ; Díaz-Maldonado, Héctor...
Nature Communications. 14 (2023) 1 - p. , 2023

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

8

Two New Cases of Bachmann–Bupp Syndrome Identified through ..:

Michael, Julianne ; VanSickle, Elizabeth ; Vipond, Marlie...
Medical Sciences. 11 (2023) 2 - p. 29 , 2023

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

9

Case report: Diagnosis of ADCY5-related dyskinesia explaini..:

Pontrucher, Audrey ; Barth, Magalie ; Ziegler, Alban...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

10

Individual and Family Determinants for Quality of Life in P..:

Ouattara, Abdoulaye ; Resseguier, Noemie ; Cano, Aline...
The Journal of Pediatrics. 254 (2023) - p. 39-47.e4 , 2023

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

11

Long‐term follow‐up of 64 children with classical infantile..:

Tardieu, Marine ; Cudejko, Céline ; Cano, Aline...
European Journal of Neurology. 30 (2023) 9 - p. 2828-2837 , 2023

Link: https://doi.org/10.1111/..

12

Prospective Multicenter Validation of a Simple Blood Test f..:

Mochel, Fanny ; Gras, Domitille ; Luton, Marie-Pierre...
Neurology. 100 (2023) 23 - p. , 2023

Link: https://doi.org/10.1212/..

13

Gain-of-function variants in the ion channel gene TRPM3 und..:

Van Hoeymissen, Evelien ; Burglen, Lydie ; Qebibo, Leila...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

14

Encéphalopathie éthylmalonique à 33 ans:

Bendimerad, Mohamed ; Barth, Magalie ; Verny, Christophe.
Revue Neurologique. 179 (2023) - p. S39-S40 , 2023

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

15

Biallelic variants in TAMM41 are associated with low muscle..:

Thompson, Kyle ; Bianchi, Lucas ; Rastelli, Francesca...
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100097 , 2022

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