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Rivera Barahona, Ana
233  Ergebnisse:
Personensuche X
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1

Identification of 34 novel mutations in propionic acidemia:..:

Rivera Barahona, Ana ; Navarrete, Rosa ; García-Rodríguez, Raquel...
Molecular Genetics and Metabolism.  , 2023
Link: http://hdl.handle.net/10..
 
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2

Altered redox homeostasis in branched-chain amino acid diso..:

Richard Rodríguez, Eva María ; Gallego Villar, Lorena ; Rivera Barahona, Ana...
Oxidative Medicine and Cellular Longevity.  , 2023
Link: http://hdl.handle.net/10..
 
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3

Mutations in SCNM1 cause orofaciodigital syndrome due to mi..:

Iturrate, Asier ; Rivera-Barahona, Ana ; Flores, Carmen-Lisset...
The American Journal of Human Genetics.  109 (2022)  10 - p. 1828-1849 , 2022
Link: https://doi.org/10.1016/..
 
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4

FOSL2 truncating variants in the last exon cause a neurodev..:

Cospain, Auriane ; Rivera-Barahona, Ana ; Dumontet, Erwan...
Genetics in Medicine.  24 (2022)  12 - p. 2475-2486 , 2022
Link: https://doi.org/10.1016/..
 
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5

Biallelic truncating variants in MAPKAPK5 cause a new devel..:

Horn, Denise ; Fernández-Núñez, Elisa ; Gomez-Carmona, Ricardo...
Genetics in Medicine.  23 (2021)  4 - p. 679-688 , 2021
Link: https://doi.org/10.1038/..
 
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6

Pathogenic implications of dysregulated miRNAs in propionic..:

Fulgencio-Covián, Alejandro ; Alonso-Barroso, Esmeralda ; Guenzel, Adam J....
Translational Research.  218 (2020)  - p. 43-56 , 2020
Link: https://doi.org/10.1016/..
 
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7

Estudios genéticos y fisiopatológicos para la búsqueda de n..:

Rivera Barahona, Ana
http://hdl.handle.net/10486/687644.  , 2019
Link: http://hdl.handle.net/10..
 
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8

Identification of 34 novel mutations in propionic acidemia:..:

Rivera-Barahona, Ana ; Navarrete, Rosa ; García-Rodríguez, Raquel...
Molecular Genetics and Metabolism.  125 (2018)  3 - p. 266-275 , 2018
Link: https://doi.org/10.1016/..
 
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9

Altered Redox Homeostasis in Branched-Chain Amino Acid Diso..:

Richard, Eva ; Gallego-Villar, Lorena ; Rivera-Barahona, Ana...
Oxidative Medicine and Cellular Longevity.  2018 (2018)  - p. 1-17 , 2018
Link: https://doi.org/10.1155/..
 
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10

Dysregulated miRNAs and their pathogenic implications for t..:

Rivera-Barahona, Ana ; Fulgencio-Covián, Alejandro ; Pérez-Cerdá, Celia...
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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11

Treatment with antioxidants ameliorates oxidative damage in..:

Rivera-Barahona, Ana ; Alonso-Barroso, Esmeralda ; Pérez, Belén...
Molecular Genetics and Metabolism.  122 (2017)  1-2 - p. 43-50 , 2017
Link: https://doi.org/10.1016/..
 
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12

Functional Characterization of the spf/ash Splicing Variati..:

Rivera-Barahona, Ana ; Sánchez-Alcudia, Rocío ; Viecelli, Hiu Man...
PLOS ONE.  10 (2015)  4 - p. e0122966 , 2015
Link: https://doi.org/10.1371/..
 
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13

Correction: Functional Characterization of the spf/ash Spli..:

Rivera-Barahona, Ana ; Sánchez-Alcudia, Rocío ; Viecelli, Hiu Man...
PLOS ONE.  10 (2015)  5 - p. e0128506 , 2015
Link: https://doi.org/10.1371/..
 
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14

FOSL2 truncating variants in the last exon cause a neurodev..:

Cospain, Auriane ; Rivera-Barahona, Ana ; Dumontet, Erwan...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.002.  , 2022
Link: https://univ-rennes.hal...
 
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15

FOSL2 truncating variants in the last exon cause a neurodev..:

Cospain, Auriane ; Rivera-Barahona, Ana ; Dumontet, Erwan...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.002.  , 2022
Link: https://univ-rennes.hal...
 
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