E-LIB Suche - Ergebnisse für: Serrano, Mercedes

1

Early treatment for children with mental health problems an..:

Serrano, Mercedes ; Elias, Maria ; Llorens, Marta...
Trials. 25 (2024) 1 - p. , 2024

2

Transcriptomic analysis identifies dysregulated pathways an..:

Gallego, Diana ; Serrano, Mercedes ; Cordoba-Caballero, Jose...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1870 (2024) 5 - p. 167163 , 2024

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

3

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac,..:

Palma-Milla, Carmen ; Prat-Planas, Aina ; Soengas-Gonda, Emma...
Pediatric Neurology. 155 (2024) - p. 8-17 , 2024

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

4

Untangling adaptive functioning of PMM2-CDG across age and ..:

Epifani, Florencia ; Pujol Serra, Susana María ; Llorens, Marta...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

5

Coexistence of junctional epidermolysis bullosa, autosomal ..:

Amato, Maria Eugenia ; Ricart, Silvia ; Vicente, Maria Asunción...
Clinical Case Reports. 11 (2023) 4 - p. , 2023

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

6

Extreme phenotypic heterogeneity in non-expansion spinocere..:

Cunha, Paulina ; Petit, Emilien ; Coutelier, Marie...
The American Journal of Human Genetics. 110 (2023) 7 - p. 1098-1109 , 2023

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

7

Impact of direct-acting antiviral therapy on survival in pa..:

Romero, Álvaro Hidalgo ; Lens, Sabela ; Muñoz, Beatriz Mateos...
Journal of Hepatology. 78 (2023) - p. S1178 , 2023

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

8

Advanced Optical Microscopy: Unveiling Functional Insights ..:

Roldán, Mònica ; Nolasco, Gregorio Alexander ; Armengol, Lluís...
International Journal of Molecular Sciences. 24 (2023) 18 - p. 13699 , 2023

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

9

Advancing in Schaaf-Yang syndrome pathophysiology: from bed..:

Castilla-Vallmanya, Laura ; Centeno-Pla, Mónica ; Serrano, Mercedes...
Journal of Medical Genetics. 60 (2022) 4 - p. 406-415 , 2022

Link: https://doi.org/10.1136/..

10

Postnatal microcephaly and retinal involvement expand the p..:

Cappuccio, Gerarda ; De Bernardi, Margherita Lucia ; Morlando, Alessia...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3032-3040 , 2022

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

11

Evaluating, Filtering and Clustering Genetic Disease Cohort..:

Rojano, Elena ; Córdoba-Caballero, José ; Jabato, Fernando M....
Journal of Personalized Medicine. 11 (2021) 8 - p. 730 , 2021

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

12

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Ev..:

Serrano, Mercedes
Frontiers in Pediatrics. 9 (2021) - p. , 2021

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

13

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Cli..:

Martínez-Monseny, Antonio F. ; Edo, Albert ; Casas-Alba, Dídac...
International Journal of Molecular Sciences. 22 (2021) 10 - p. 5180 , 2021

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

14

Dissecting the transcriptional program of phosphomannomutas..:

Parrado, Antonio ; Rubio, Gonzalo ; Serrano, Mercedes...
Glycobiology. 32 (2021) 2 - p. 84-100 , 2021

Link: https://doi.org/10.1093/..

15

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be..:

Čechová, Anna ; Honzík, Tomáš ; Edmondson, Andrew C....
Molecular Genetics and Metabolism. 133 (2021) 4 - p. 397-399 , 2021

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