E-LIB Suche - Ergebnisse für: Urreizti, Roser

1

Identification and characterization of a new pathologic mut..:

Emperador, Sonia ; Habbane, Mouna ; López-Gallardo, Ester...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

2

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/..

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/..

4

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/..

5

Fibroblast phenylalanine concentration as a surrogate bioma..:

Oliva, Clara ; Arias, Angela ; Ruiz, Montserrat...
Journal of Chromatography B. 1226 (2023) - p. 123787 , 2023

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

6

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/..

7

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/..

8

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous..:

Castilla-Vallmanya, Laura ; Gürsoy, Semra ; Giray-Bozkaya, Özlem...
International Journal of Molecular Sciences. 22 (2021) 4 - p. 1549 , 2021

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

9

Five new cases of syndromic intellectual disability due to ..:

Urreizti, Roser ; Lopez-Martin, Estrella ; Martinez-Monseny, Antonio...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

10

Impairment of the mitochondrial one-carbon metabolism enzym..:

García-Cazorla, Àngels ; Verdura, Edgard ; Juliá-Palacios, Natalia...
Acta Neuropathologica. 140 (2020) 6 - p. 971-975 , 2020

Link: https://doi.org/10.1007/..

11

Extending the phenotypic spectrum of Bohring‐Opitz syndrome..:

Leon, Eyby ; Diaz, Jullianne ; Castilla‐Vallmanya, Laura...
American Journal of Medical Genetics Part A. 182 (2019) 1 - p. 201-204 , 2019

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

12

Correction: DPH1 syndrome: two novel variants and structura..:

Urreizti, Roser ; Mayer, Klaus ; Evrony, Gilad D....
European Journal of Human Genetics. 28 (2019) 1 - p. 138-138 , 2019

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

13

Case report of a child bearing a novel deleterious splicing..:

Mason, Samantha ; Castilla-Vallmanya, Laura ; James, Con...
Medicine. 98 (2019) 8 - p. e14524 , 2019

Link: https://doi.org/10.1097/..

14

DPH1 syndrome: two novel variants and structural and functi..:

Urreizti, Roser ; Mayer, Klaus ; Evrony, Gilad D....
European Journal of Human Genetics. 28 (2019) 1 - p. 64-75 , 2019

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

15

A De Novo FOXP1 Truncating Mutation in a Patient Originally..:

Urreizti, Roser ; Damanti, Sarah ; Esteve, Carla...
Scientific Reports. 8 (2018) 1 - p. , 2018

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