I agree that this site is using cookies. You can find further informations here.
X
Ferrer-Cortès, Xenia
38  results:
Search for persons X
?
1

New Cases and Mutations in SEC23B Gene Causing Congenital D..:

Musri, Melina Mara ; Venturi, Veronica ; Ferrer-Cortès, Xènia...
International Journal of Molecular Sciences.  24 (2023)  12 - p. 9935 , 2023
Link: https://doi.org/10.3390/..
 
?
2

New Cases of Hypochromic Microcytic Anemia Due to Mutations..:

Romero-Cortadellas, Lídia ; Hernández, Gonzalo ; Ferrer-Cortès, Xènia...
International Journal of Molecular Sciences.  23 (2022)  8 - p. 4406 , 2022
Link: https://doi.org/10.3390/..
 
?
3

Mutations in the RACGAP1 gene cause autosomal recessive con..:

Hernández, Gonzalo ; Romero-Cortadellas, Lídia ; Ferrer-Cortès, Xènia...
Haematologica.  108 (2022)  2 - p. 581-587 , 2022
Link: https://doi.org/10.3324/..
 
?
4

A mutation in the iron-responsive element of ALAS2 is a mod..:

Ducamp, Sarah ; Luscieti, Sara ; Ferrer-Cortès, Xènia...
Haematologica.  106 (2021)  7 - p. 2030-2033 , 2021
Link: https://doi.org/10.3324/..
 
?
5

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Relate..:

Hernández, Gonzalo ; Ferrer-Cortès, Xenia ; Venturi, Veronica...
Genes.  12 (2021)  12 - p. 1980 , 2021
Link: https://doi.org/10.3390/..
 
?
6

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L ..:

Celma Nos, Ferran ; Hernández, Gonzalo ; Ferrer-Cortès, Xènia...
International Journal of Molecular Sciences.  22 (2021)  11 - p. 5451 , 2021
Link: https://doi.org/10.3390/..
 
?
7

Biallelic mutations in NDUFA8 cause complex I deficiency in..:

Tort, Frederic ; Barredo, Estibaliz ; Parthasarathy, Ranjani...
Molecular Genetics and Metabolism.  131 (2020)  3 - p. 349-357 , 2020
Link: https://doi.org/10.1016/..
 
?
8

A leaky splicing mutation in NFU1 is associated with a part..:

Ferrer-Cortès, Xènia ; Narbona, Juan ; Bujan, Núria...
Mitochondrion.  26 (2016)  - p. 72-80 , 2016
Link: https://doi.org/10.1016/..
 
?
9

Effect of Readthrough Treatment in Fibroblasts of Patients ..:

Matalonga, Leslie ; Arias, Ángela ; Tort, Frederic...
Neurotherapeutics.  12 (2015)  4 - p. 874-886 , 2015
Link: https://doi.org/10.1007/..
 
?
10

Exome sequencing identifies a new mutation in SERAC1 in a p..:

Tort, Frederic ; García-Silva, María Teresa ; Ferrer-Cortès, Xènia...
Molecular Genetics and Metabolism.  110 (2013)  1-2 - p. 73-77 , 2013
Link: https://doi.org/10.1016/..
 
?
11

Mutations in the lipoyltransferaseLIPT1gene cause a fatal d..:

Tort, Frederic ; Ferrer-Cortès, Xènia ; Thió, Marta...
Human Molecular Genetics.  23 (2013)  7 - p. 1907-1915 , 2013
Link: https://doi.org/10.1093/..
 
?
12

Mutations in the RACGAP1 gene cause autosomal recessive con..:

Hernández, Gonzalo ; Romero-Cortadellas, Lídia ; Ferrer-Cortès, Xènia...
Haematologica.  , 2024
Link: https://hdl.handle.net/2..
 
?
13

A mutation in the iron-responsive element of ALAS2 is a mod..:

Ducamp, Sarah ; Luscieti, Sara ; Ferrer-Cortès, Xènia...
Haematologica.  , 2024
Link: https://hdl.handle.net/2..
 
?
14

New cases of hypochromic microcytic anemia due to mutations..:

Romero-Cortadellas, Lídia ; Hernández, Gonzalo ; Ferrer-Cortès, Xènia...
International Journal of Molecular Sciences.  , 2024
Link: https://hdl.handle.net/2..
 
?
15

New cases and mutations in SEC23B gene causing congenital d..:

Mara Musri, Melina ; Venturi, Veronica ; Ferrer-Cortès, Xènia...
International Journal of Molecular Sciences.  , 2023
Link: https://hdl.handle.net/2..
 
1-15