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Yubero, Dèlia
82
results:
Search for persons
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Format
Online (82)
Mediatypes
Articles (Online) (37)
Bookchapter (Online) (1)
OpenAccess-fulltext (44)
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english (76)
Sorted by: Relevance
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?
1
Improving Diagnostic Precision: Phenotype-Driven Analysis U..:
Estévez-Arias, Berta
;
Matalonga, Leslie
;
Martorell, Loreto
...
Journal of Neuromuscular Diseases. 11 (2024) 3 - p. 647-653 , 2024
Link:
https://doi.org/10.3233/..
?
2
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/..
?
3
Variants in DTNA cause a mild, dominantly inherited muscula..:
Nascimento, Andres
;
Bruels, Christine C.
;
Donkervoort, Sandra
...
Acta Neuropathologica. 145 (2023) 4 - p. 479-496 , 2023
Link:
https://doi.org/10.1007/..
?
4
Woolly hair in tricho‐dento‐osseous syndrome:
Perandones‐González, Héctor
;
Rusiñol‐Batlle, Lluis
;
Bosquez, David
...
Pediatric Dermatology. 40 (2023) 6 - p. 1094-1096 , 2023
Link:
https://doi.org/10.1111/..
?
5
Relationship Between Epileptic Activity and Developmental O..:
Casas-Alba, Dídac
;
Aguilar, Anna
;
Alonso, Itziar
...
Pediatric Neurology. 144 (2023) - p. 11-15 , 2023
Link:
https://doi.org/10.1016/..
?
6
Molecular Modelling Hurdle in the Next-Generation Sequencin..:
Fernandez, Guerau
;
Yubero, Dèlia
;
Palau, Francesc
.
International Journal of Molecular Sciences. 23 (2022) 13 - p. 7176 , 2022
Link:
https://doi.org/10.3390/..
?
7
The diagnosis of the first‐documented intragenic KANSL1 mic..:
Martorell, Loreto
;
Yubero, Delia
;
Capdevila, Esther Cuatrecasas
...
Clinical Genetics. 101 (2022) 5-6 - p. 575-576 , 2022
Link:
https://doi.org/10.1111/..
?
8
The clinical and biochemical hallmarks generally associated..:
Sánchez‐Lijarcio, Obdulia
;
Yubero, Delia
;
Leal, Fátima
...
Clinical Genetics. 102 (2022) 1 - p. 40-55 , 2022
Link:
https://doi.org/10.1111/..
?
9
Neurodevelopmental Gene‐Related Dystonia: A Pediatric Case ..:
Yubero, Delia
;
Martorell, Loreto
;
Nunes, Tania
..
Movement Disorders. 37 (2022) 11 - p. 2320-2321 , 2022
Link:
https://doi.org/10.1002/..
?
10
Leigh syndrome is the main clinical characteristic of PTCD3..:
Muñoz‐Pujol, Gerard
;
Ortigoza‐Escobar, Juan D.
;
Paredes‐Fuentes, Abraham J.
...
Brain Pathology. 33 (2022) 3 - p. , 2022
Link:
https://doi.org/10.1111/..
?
11
The Increasing Impact of Translational Research in the Mole..:
Yubero, Dèlia
;
Natera-de Benito, Daniel
;
Pijuan, Jordi
...
International Journal of Molecular Sciences. 22 (2021) 8 - p. 4274 , 2021
Link:
https://doi.org/10.3390/..
?
12
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fl..:
Trifunov, Selena
;
Paredes-Fuentes, Abraham J
;
Badosa, Carmen
...
Clinical Chemistry. 67 (2021) 8 - p. 1113-1121 , 2021
Link:
https://doi.org/10.1093/..
?
13
The Phenotype and Genotype of Congenital Myopathies Based o..:
Natera-de Benito, Daniel
;
Ortez, Carlos
;
Jou, Cristina
...
Pediatric Neurology. 115 (2021) - p. 50-65 , 2021
Link:
https://doi.org/10.1016/..
?
14
Biochemical Diagnosis of Mitochondrial Disorders:
, In:
Mitochondrial Diseases
,
Yubero, Delia
;
Montero, Raquel
;
Artuch, Rafael
- p. 201-214 , 2021
Link:
https://doi.org/10.1007/..
?
15
Paroxysmal Non‐Kinesigenic Dyskinesia: Utility of the Quant..:
Soliani, Luca
;
Martorell, Loreto
;
Yubero, Delia
...
Movement Disorders Clinical Practice. 9 (2021) 2 - p. 252-254 , 2021
Link:
https://doi.org/10.1002/..
1-15