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Aguilera, Cinthia
52
results:
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Online (52)
Mediatypes
Articles (Online) (13)
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1
New genetic drivers in hemorrhagic hereditary telangiectasi:
Cerdà, Pau
;
Castillo, Sandra D.
;
Aguilera, Cinthia
...
European Journal of Internal Medicine. 119 (2024) - p. 99-108 , 2024
Link:
https://doi.org/10.1016/..
?
2
Optical coherence tomography biomarkers in MYO7A-inherited ..:
Subirà, Olaia
;
Català-Mora, Jaume
;
del Prado, Cristina
...
Graefe's Archive for Clinical and Experimental Ophthalmology. , 2024
Link:
https://doi.org/10.1007/..
?
3
Novel 14q32.2 paternal deletion encompassing the whole DLK1..:
Baena, Neus
;
Monk, David
;
Aguilera, Cinthia
...
Clinical Epigenetics. 16 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
4
Pioneering the future: CRISPR-Cas9 gene therapy for heredit..:
Cerdà, Pau
;
Aguilera, Cinthia
;
Riera-Mestre, Antoni
European Journal of Internal Medicine. , 2024
Link:
https://doi.org/10.1016/..
?
5
Deciphering complexity: TULP1 variants linked to an atypica..:
Esteve-Garcia, Anna
;
Cobos, Estefania
;
Sau, Cristina
...
Frontiers in Genetics. 15 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
6
Novel intragenic deletion within the FXN gene in a patient ..:
Aguilera, Cinthia
;
Esteve-Garcia, Anna
;
Casasnovas, Carlos
...
BMC Medical Genomics. 16 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
7
Improving Hereditary Hemorrhagic Telangiectasia Molecular D..:
Aguilera, Cinthia
;
Padró-Miquel, Ariadna
;
Esteve-Garcia, Anna
...
Genes. 14 (2023) 3 - p. 772 , 2023
Link:
https://doi.org/10.3390/..
?
8
The Novel KIF1A Missense Variant (R169T) Strongly Reduces M..:
Aguilera, Cinthia
;
Hümmer, Stefan
;
Masanas, Marc
...
Frontiers in Neuroscience. 15 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
9
New genes involved in Angelman syndrome-like: Expanding the..:
Aguilera, Cinthia
;
Gabau, Elisabeth
;
Ramirez-Mallafré, Ariadna
...
PLOS ONE. 16 (2021) 10 - p. e0258766 , 2021
Link:
https://doi.org/10.1371/..
?
10
Identification of a de novo splicing variant in the Coffin–..:
Aguilera, Cinthia
;
Gabau, Elisabeth
;
Laurie, Steve
...
Molecular Genetics & Genomic Medicine. 7 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1002/..
?
11
Novel intragenic deletions within the UBE3A gene in two unr..:
Aguilera, Cinthia
;
Viñas-Jornet, Marina
;
Baena, Neus
...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/..
?
12
Deciphering complexity: TULP1 variants linked to an atypica..:
Esteve Garcia, Anna
;
Cobos, Estefania
;
Sau, Cristina
...
Reproducció del document publicat a: https://doi.org/10.3389/fgene.2024.1352063. , 2024
Link:
http://hdl.handle.net/24..
?
13
New genetic drivers in hemorrhagic hereditary telangiectasi:
Cerdà, Pau
;
Castillo, Sandra D
;
Aguilera, Cinthia
...
Reproducció del document publicat a: https://doi.org/10.1016/j.ejim.2023.08.024. , 2024
Link:
http://hdl.handle.net/24..
?
14
Improving hemorrhagic hereditary telangiectasia molecular d..:
Aguilera, Cinthia
;
Padró i Miquel, Ariadna
;
Esteve Garcia, Anna
...
Reproducció del document publicat a: https://doi.org/10.3390/genes14030772. , 2023
Link:
http://hdl.handle.net/24..
?
15
Novel intragenic deletion within the FXN gene in a patient ..:
Aguilera, Cinthia
;
Esteve Garcia, Anna
;
Casasnovas, Carlos
...
Reproducció del document publicat a: https://doi.org/10.1186/s12920-023-01743-0. , 2023
Link:
http://hdl.handle.net/24..
1-15