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López-Grondona, Fermina
31
results:
Search for persons
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Format
Online (31)
Mediatypes
Articles (Online) (13)
OpenAccess-fulltext (18)
Languages
english (26)
spanish (4)
Sorted by: Relevance
Sorted by: Year
?
1
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 1..:
Fernández-Caballero, Lidia
;
Martín-Merida, Inmaculada
;
Blanco-Kelly, Fiona
...
International Journal of Molecular Sciences. 25 (2024) 5 - p. 2913 , 2024
Link:
https://doi.org/10.3390/..
?
2
Attention Deficit Hyperactivity and Autism Spectrum Disorde..:
Sanchez-Jimeno, Carolina
;
Blanco-Kelly, Fiona
;
López-Grondona, Fermina
...
Genes. 12 (2021) 9 - p. 1360 , 2021
Link:
https://doi.org/10.3390/..
?
3
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Diso..:
Tenorio-Castaño, Jair
;
Morte, Beatriz
;
Nevado, Julián
...
Genes. 12 (2021) 5 - p. 738 , 2021
Link:
https://doi.org/10.3390/..
?
4
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic..:
Santos-Simarro, Fernando
;
Pacio, Marta
;
Cueto-González, Anna María
...
European Journal of Medical Genetics. 64 (2021) 11 - p. 104338 , 2021
Link:
https://doi.org/10.1016/..
?
5
Comparative genomic hybridisation as a first option in gene..:
Castells-Sarret, Neus
;
Cueto-González, Anna M.
;
Borregan, Mar
...
Anales de Pediatría (English Edition). 89 (2018) 1 - p. 3-11 , 2018
Link:
https://doi.org/10.1016/..
?
6
Array CGH como primera opción en el diagnóstico genético: 1..:
Castells-Sarret, Neus
;
Cueto-González, Anna M.
;
Borregan, Mar
...
Anales de Pediatría. 89 (2018) 1 - p. 3-11 , 2018
Link:
https://doi.org/10.1016/..
?
7
Toward clinical and molecular dissection of frontonasal dys..:
Lehalle, Daphné
;
Bruel, Ange‐Line
;
Vitobello, Antonio
...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2036-2047 , 2022
Link:
https://doi.org/10.1002/..
?
8
Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Mul..:
Manchola-Linero, Alejandra
;
Gran Ipiña, Ferran
;
Teixidó-Tura, Gisela
...
Revista Española de Cardiología (English Edition). 71 (2018) 7 - p. 585-587 , 2018
Link:
https://doi.org/10.1016/..
?
9
Terminal deletion of the chromosome 7(q36–qter) in an infan..:
Rodríguez, Laura
;
Cuadrado Pérez, Irene
;
Herrera Montes, Juana
...
American Journal of Medical Genetics. 110 (2002) 1 - p. 73-77 , 2002
Link:
https://doi.org/10.1002/..
?
10
The recurrent TCF4 missense variant p.( Arg389Cys ) causes ..:
Popp, Bernt
;
Bienvenu, Thierry
;
Giurgea, Irina
...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14206. , 2022
Link:
https://inserm.hal.scien..
?
11
The recurrent TCF4 missense variant p.(Arg389Cys) causes a ..:
Popp, Bernt
;
Bienvenu, Thierry
;
Giurgea, Irina
...
https://boris.unibe.ch/171667/. , 2022
Link:
https://boris.unibe.ch/1..
?
12
The recurrent TCF4 missense variant p.( Arg389Cys ) causes ..:
Popp, Bernt
;
Bienvenu, Thierry
;
Giurgea, Irina
...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14206. , 2022
Link:
https://inserm.hal.scien..
?
13
The recurrent TCF4 missense variant p.( Arg389Cys ) causes ..:
Popp, Bernt
;
Bienvenu, Thierry
;
Giurgea, Irina
...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14206. , 2022
Link:
https://inserm.hal.scien..
?
14
Systematic Collaborative Reanalysis of Genomic Data Improve..:
Bullich Vilanova, Gemma
;
Matalonga, Leslie
;
Pujadas, Montserrat
...
European Commission 305444. , 2022
Link:
https://ddd.uab.cat/reco..
?
15
The recurrent TCF4 missense variant p.( Arg389Cys ) causes ..:
Popp, Bernt
;
Bienvenu, Thierry
;
Giurgea, Irina
...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14206. , 2022
Link:
https://inserm.hal.scien..
1-15