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Barcia, Giulia
274
results:
Format
Online (274)
Mediatypes
Articles (Online) (65)
OpenAccess-fulltext (209)
Languages
english (270)
french (1)
Sorted by: Relevance
Sorted by: Year
?
1
Polyradiculoneuritis on MRI: An Overlooked Feature of Biall..:
Roux, Charles-Joris
;
Dufeu-Berat, Claire-Marine
;
Hully, Marie
...
Neurology. 102 (2024) 11 - p. , 2024
Link:
https://doi.org/10.1212/..
?
2
Primary mitochondrial disorders and mimics: Insights from a..:
Rouzier, Cécile
;
Pion, Emmanuelle
;
Chaussenot, Annabelle
...
Annals of Clinical and Translational Neurology. 11 (2024) 6 - p. 1478-1491 , 2024
Link:
https://doi.org/10.1002/..
?
3
Chloride deregulation and GABA depolarization in MTOR relat..:
Bakouh, Naziha
;
Castaño-Martín, Reyes
;
Metais, Alice
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
?
4
Lessons from two series by physicians and caregivers' self‐..:
Ruault, Valentin
;
Burger, Pauline
;
Gradels‐Hauguel, Johanna
...
Molecular Genetics & Genomic Medicine. 12 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1002/..
?
5
Genetic testing, another important tool in presurgical eval..:
Garcia‐Uzquiano, Rocio
;
Barcia, Giulia
;
Losito, Emma
...
Epilepsia Open. 9 (2024) 4 - p. 1589-1596 , 2024
Link:
https://doi.org/10.1002/..
?
6
Novel ELAC2 Mutations in Individuals Presenting with Variab..:
Cafournet, Cérane
;
Zanin, Sofia
;
Guimier, Anne
...
Life. 13 (2023) 2 - p. 445 , 2023
Link:
https://doi.org/10.3390/..
?
7
Genotypic and phenotypic spectrum of infantile liver failur..:
Vogel, Georg F.
;
Mozer-Glassberg, Yael
;
Landau, Yuval E.
...
Genetics in Medicine. 25 (2023) 6 - p. 100828 , 2023
Link:
https://doi.org/10.1016/..
?
8
Clinical and radiological description of 120 pediatric stro..:
Durrleman, Chloe
;
Grevent, David
;
Aubart, Melodie
...
European Journal of Neurology. 30 (2023) 7 - p. 2051-2061 , 2023
Link:
https://doi.org/10.1111/..
?
9
Genotypic and phenotypic spectrum of infantile liver failur..:
Vogel, Georg F.
;
Mozer-Glassberg, Yael
;
Landau, Yuval E.
...
Genetics in Medicine. 25 (2023) 6 - p. 100314 , 2023
Link:
https://doi.org/10.1016/..
?
10
Adaptive behavior and psychiatric comorbidities in KCNB1 en..:
Bar, Claire
;
Breuillard, Delphine
;
Kuchenbuch, Mathieu
...
Epilepsy & Behavior. 126 (2022) - p. 108471 , 2022
Link:
https://doi.org/10.1016/..
?
11
Defining causal variants in rare epilepsies: an essential t..:
McTague, Amy
;
Brunklaus, Andreas
;
Barcia, Giulia
...
European Journal of Medical Genetics. 65 (2022) 7 - p. 104531 , 2022
Link:
https://doi.org/10.1016/..
?
12
Mild MDPL in a patient with a novel de novo missense varian..:
Chopra, Maya
;
Caswell, Richard
;
Barcia, Giulia
...
European Journal of Human Genetics. 30 (2022) 8 - p. 960-966 , 2022
Link:
https://doi.org/10.1038/..
?
13
Molecular and clinical descriptions of patients with GABAA ..:
Maillard, Pierre‐Yves
;
Baer, Sarah
;
Schaefer, Élise
...
Epilepsia. 63 (2022) 10 - p. 2519-2533 , 2022
Link:
https://doi.org/10.1111/..
?
14
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: ..:
Guerrini, Renzo
;
Mei, Davide
;
Kerti-Szigeti, Katalin
...
Brain. 145 (2022) 8 - p. 2687-2703 , 2022
Link:
https://doi.org/10.1093/..
?
15
The EPIGENE network: A French initiative to harmonize and i..:
Arnaud, Lionel
;
Abi Warde, Marie-Thérèse
;
Barcia, Giulia
...
European Journal of Medical Genetics. 65 (2022) 3 - p. 104445 , 2022
Link:
https://doi.org/10.1016/..
1-15