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Yubero, Dèlia
84  results:
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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/..
 
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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/..
 
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3

Trichoscopic findings in neonatal alopecia in oro‐facial‐di..:

Martinez‐Molina, Manel ; Carmona‐Rocha, Elena ; Gil‐Lianes, Javier...
Pediatric Dermatology.  , 2024
Link: https://doi.org/10.1111/..
 
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4

New variants expand the neurological phenotype of COQ7 defi..:

Fabra, María Alcázar ; Paredes‐Fuentes, Abraham J. ; Torralba Carnerero, Manuel...
Journal of Inherited Metabolic Disease.  , 2024
Link: https://doi.org/10.1002/..
 
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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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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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/..
 
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14

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/..
 
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15

Pediatric Gaucher disease with intermediate type 2–3 phenot..:

Darling, Alejandra ; Irún, Pilar ; Giraldo, Pilar...
Parkinsonism & Related Disorders.  91 (2021)  - p. 19-22 , 2021
Link: https://doi.org/10.1016/..
 
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