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González-Quintana, Adrián
1302  results:
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1

A Novel Mutation Associated with Neonatal Lethal Cardiomyop..:

Amate-García, Guillermo ; Ballesta-Martínez, María Juliana ; Serrano-Lorenzo, Pablo...
International Journal of Molecular Sciences.  24 (2023)  2 - p. 1743 , 2023
Link: https://doi.org/10.3390/..
 
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2

Integration of Phenotype Term Prioritization and Gene Expre..:

González-Quintana, Adrián ; Garrido-Moraga, Rocío ; Palencia-Pérez, Sara I....
Genes.  14 (2023)  7 - p. 1494 , 2023
Link: https://doi.org/10.3390/..
 
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3

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency a..:

González-Quintana, Adrián ; García-Consuegra, Inés ; Belanger-Quintana, Amaya...
Genes.  11 (2020)  8 - p. 855 , 2020
Link: https://doi.org/10.3390/..
 
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4

Uniparental isodisomy as a cause of mitochondrial complex I..:

González-Quintana, Adrián ; Trujillo-Tiebas, María J. ; Fernández-Perrone, Ana L....
Molecular Genetics and Metabolism.  131 (2020)  3 - p. 341-348 , 2020
Link: https://doi.org/10.1016/..
 
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5

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/..
 
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6

Novel ATAD3A recessive mutation associated to fatal cerebel..:

Peralta, Susana ; González-Quintana, Adrián ; Ybarra, Marta...
Molecular Genetics and Metabolism.  128 (2019)  4 - p. 452-462 , 2019
Link: https://doi.org/10.1016/..
 
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7

Different mitochondrial genetic defects exhibit the same pr..:

Santacatterina, Fulvio ; Torresano, Laura ; Núñez-Salgado, Alfonso...
Free Radical Biology and Medicine.  126 (2018)  - p. 235-248 , 2018
Link: https://doi.org/10.1016/..
 
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8

Missense mutations have unexpected consequences: The McArdl..:

García-Consuegra, Inés ; Asensio-Peña, Sara ; Ballester-Lopez, Alfonsina...
Human Mutation.  39 (2018)  10 - p. 1338-1343 , 2018
Link: https://doi.org/10.1002/..
 
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9

Genotypic and phenotypic features of all Spanish patients w..:

Santalla, Alfredo ; Nogales-Gadea, Gisela ; Encinar, Alberto Blázquez...
BMC Genomics.  18 (2017)  S8 - p. , 2017
Link: https://doi.org/10.1186/..
 
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10

Taking advantage of an old concept, "illegitimate transcrip..:

Garcia-Consuegra, Ines ; Blázquez, Alberto ; Rubio, Juan Carlos...
Genetics in Medicine.  18 (2016)  11 - p. 1128-1135 , 2016
Link: https://doi.org/10.1038/..
 
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11

A Novel Mutation Associated with Neonatal Lethal Cardiomyop..:

Amate-García, Guillermo ; Ballesta-Martínez, María Juliana ; Serrano-Lorenzo, Pablo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9865986/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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12

Genotypic and phenotypic features of all Spanish patients w..:

Santalla, Alfredo ; Nogales, Gisela ; Encinar, Alberto Blázquez...
Ministerio de Economía y Competitividad PI15/00558.  , 2017
Link: https://ddd.uab.cat/reco..
 
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13

Integration of Phenotype Term Prioritization and Gene Expre..:

Adrián González-Quintana ; Rocío Garrido-Moraga ; Sara I. Palencia-Pérez...
Genetic Diagnosis.  , 2023
Link: https://doi.org/10.3390/..
 
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14

A Novel Mutation Associated with Neonatal Lethal Cardiomyop..:

Guillermo Amate-García ; María Juliana Ballesta-Martínez ; Pablo Serrano-Lorenzo...
Molecular Genetics and Genomics.  , 2023
Link: https://doi.org/10.3390/..
 
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15

A Novel Mutation Associated with Neonatal Lethal Cardiomyop..:

Guillermo Amate-García ; María Juliana Ballesta-Martínez ; Pablo Serrano-Lorenzo...
https://www.mdpi.com/1422-0067/24/2/1743.  , 2023
Link: https://doi.org/10.3390/..
 
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