E-LIB Suche - Ergebnisse für: Quijada-Fraile, Pilar

1

Expanding the genetic and phenotypic spectrum of congenital..:

Cotrina-Vinagre, Francisco Javier ; Rodríguez-García, María Elena ; del Pozo-Filíu, Lucía...
Journal of Human Genetics. 69 (2024) 5 - p. 187-196 , 2024

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

2

Correction: A novel de novo variant in CASK causes a severe..:

Rodríguez-García, María Elena ; Cotrina-Vinagre, Francisco Javier ; Olson, Alexandra N....
Journal of Human Genetics. 68 (2023) 8 - p. 577-577 , 2023

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

3

A novel de novo variant in CASK causes a severe neurodevelo..:

Rodríguez-García, María Elena ; Cotrina-Vinagre, Francisco Javier ; Olson, Alexandra N....
Journal of Human Genetics. 68 (2023) 8 - p. 543-550 , 2023

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

4

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and..:

Alcaide, Patricia ; Ferrer-López, Isaac ; Gutierrez, Leticia...
Journal of Clinical Medicine. 11 (2022) 10 - p. 2933 , 2022

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

5

Identification of Clinical Variants beyond the Exome in Inb..:

Soriano-Sexto, Alejandro ; Gallego, Diana ; Leal, Fátima...
International Journal of Molecular Sciences. 23 (2022) 21 - p. 12850 , 2022

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

6

Recommendations for the Diagnosis and Therapeutic Managemen..:

Bélanger-Quintana, Amaya ; Arrieta Blanco, Francisco ; Barrio-Carreras, Delia...
Nutrients. 14 (2022) 13 - p. 2755 , 2022

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

7

Switching to Glycerol Phenylbutyrate in 48 Patients with Ur..:

Martín-Hernández, Elena ; Quijada-Fraile, Pilar ; Correcher, Patricia...
Journal of Clinical Medicine. 11 (2022) 17 - p. 5045 , 2022

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

8

Clinical features and health-related quality of life in adu..:

Quijada-Fraile, Pilar ; Arranz Canales, Elena ; Martín-Hernández, Elena...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

9

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A.M. ; Richer, Julie...
The American Journal of Human Genetics. 108 (2021) 11 - p. 2195-2204 , 2021

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

10

Chemotherapy in a Breast Cancer Patient Heterozygous Carrie..:

Palka-Kotlowska, Magda ; Cabezón-Gutiérrez, Luis ; Custodio-Cabello, Sara..
Cureus. , 2020

Link: https://doi.org/10.7759/..

11

Value of genetic analysis for confirming inborn errors of m..:

Navarrete, Rosa ; Leal, Fátima ; Vega, Ana I....
European Journal of Human Genetics. 27 (2019) 4 - p. 556-562 , 2019

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

12

Genes and Variants Underlying Human Congenital Lactic Acido..:

Bravo-Alonso, Irene ; Navarrete, Rosa ; Vega, Ana Isabel...
Journal of Clinical Medicine. 8 (2019) 11 - p. 1811 , 2019

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

13

Quantification of urinary derivatives of Phenylbutyric and ..:

Andrade, Fernando ; Vitoria, Isidro ; Martín Hernández, Elena...
Journal of Pharmaceutical and Biomedical Analysis. 176 (2019) - p. 112798 , 2019

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

14

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 G..:

Martín-Hernández, Elena ; García-Silva, María Teresa ; Quijada-Fraile, Pilar...
Pediatric and Developmental Pathology. 20 (2017) 5 - p. 416-420 , 2017

Link: https://doi.org/10.1177/..

15

Targeted next generation sequencing in patients with infant..:

Ortigoza-Escobar, Juan Dario ; Marti-Sanchez, Laura ; Molero-Luis, Marta...
European Journal of Paediatric Neurology. 21 (2017) - p. e161 , 2017

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