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Garcia-Cazorla, Angels
504
results:
Search for persons
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Format
Online (504)
Mediatypes
E-Books (5)
Articles (Online) (373)
Bookchapter (Online) (22)
OpenAccess-fulltext (104)
Languages
english (462)
spanish (7)
Sorted by: Relevance
Sorted by: Year
?
1
Genome and RNA sequencing were essential to reveal cryptic ..:
Morales-Romero, Blai
;
Muñoz-Pujol, Gerard
;
Artuch, Rafael
...
Molecular Genetics and Metabolism. 142 (2024) 3 - p. 108511 , 2024
Link:
https://doi.org/10.1016/..
?
2
Clinical and molecular outcomes from the 5-Year natural his..:
Tokatly Latzer, Itay
;
Roullet, Jean-Baptiste
;
Afshar-Saber, Wardiya
...
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
3
Mutations of GEMIN5 are associated with coenzyme Q10 defici..:
Cascajo-Almenara, Marivi V.
;
Juliá-Palacios, Natalia.
;
Urreizti, Roser
...
European Journal of Human Genetics. 32 (2024) 4 - p. 426-434 , 2024
Link:
https://doi.org/10.1038/..
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4
Consensus guidelines for the diagnosis and management of su..:
Tokatly Latzer, Itay
;
Bertoldi, Mariarita
;
Blau, Nenad
...
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108363 , 2024
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
Mitochondrial modulation with leriglitazone as a potential ..:
Musokhranova, Uliana
;
Grau, Cristina
;
Vergara, Cristina
...
Journal of Translational Medicine. 21 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
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7
STUDY OF CELL TRAFFICKING FOR THE DESCRIPTION OF PERSONALIZ..:
Díaz-Osorio, Yaiza
;
Serradell, Anna
;
Darling, Alejandra
..
IBRO Neuroscience Reports. 15 (2023) - p. S552 , 2023
Link:
https://doi.org/10.1016/..
?
8
Sphingolipid desaturase DEGS1 is essential for mitochondria..:
Planas-Serra, Laura
;
Launay, Nathalie
;
Goicoechea, Leire
...
Journal of Clinical Investigation. 133 (2023) 10 - p. , 2023
Link:
https://doi.org/10.1172/..
?
9
Pathophysiology of Epilepsy in Inherited Metabolic Disorder..:
Latzer, Itay Tokatly
;
DiBacco, Melissa
;
Opladen, Thomas
...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023
Link:
https://doi.org/10.1212/..
?
10
Prevalence of DDC genotypes in patients with aromatic L-ami..:
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Alfadhel, Majid
...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107624 , 2023
Link:
https://doi.org/10.1016/..
?
11
ClinPrior: an algorithm for diagnosis and novel gene discov..:
Schlüter, Agatha
;
Vélez-Santamaría, Valentina
;
Verdura, Edgard
...
Genome Medicine. 15 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
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12
COMPREHENSIVE DELINEATION AND PRECISION MEDICINE OF GRIN-RE..:
Olivella, Mireia
;
Santos-Gómez, Ana
;
Juliá-Palacios, Natalia
...
IBRO Neuroscience Reports. 15 (2023) - p. S71 , 2023
Link:
https://doi.org/10.1016/..
?
13
MULTI-OMICS CHARACTERIZATION OF NEURODEVELOPMENTAL DISORDER:
Illescas, Katia Sofia
;
Isern, Guerau Fernández
;
Oyarzábal, Alfonso
.
IBRO Neuroscience Reports. 15 (2023) - p. S583 , 2023
Link:
https://doi.org/10.1016/..
?
14
MITOCHONDRIAL MODULATION WITH LERIGLITAZONE AS A POTENTIAL ..:
Musokhranova, Uliana
;
Oyarzábal, Alfonso
;
Grau, Cristina
.
IBRO Neuroscience Reports. 15 (2023) - p. S122 , 2023
Link:
https://doi.org/10.1016/..
?
15
Phenotypic correlates of structural and functional protein ..:
Tokatly Latzer, Itay
;
Roullet, Jean-Baptiste
;
Cesaro, Samuele
...
Human Genetics. 142 (2023) 12 - p. 1755-1776 , 2023
Link:
https://doi.org/10.1007/..
1-15