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Aguilera, Cinthia
52  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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..
 
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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..
 
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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..
 
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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..
 
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