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Rosa Navarrete

Showing results (1-10 of 31) with videos related to

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Peerj. Computer Science|September 9, 2021
Efficient processing of complex XSD using Hive and SparkDiana Martinez-Mosquera, Rosa Navarrete, Sergio Luján-Mora
Human Mutation|June 21, 2006
Mutational spectrum of maple syrup urine disease in SpainPilar Rodríguez-Pombo, Rosa Navarrete, Begoña Merinero, et al.
Journal of Human Genetics|October 20, 2006
New splicing mutations in propionic acidemiaLourdes R Desviat, Sonia Clavero, Celia Perez-Cerdá, et al.
Journal of Psychosomatic Research|October 4, 2005
Spanish version of the Delirium Rating Scale-Revised-98: reliability and validityFrancina Fonseca, Antonio Bulbena, Rosa Navarrete, et al.
Journal of Inherited Metabolic Disease|May 1, 2010
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine diseasePaula Fernández-Guerra, Rosa Navarrete, Kara Weisiger, et al.
Molecular Genetics and Metabolism|January 23, 2009
High frequency of large genomic deletions in the PCCA gene causing propionic acidemiaLourdes R Desviat, Rocío Sanchez-Alcudia, Belén Pérez, et al.
Human Mutation|October 23, 2012
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine diseaseAlfonso Oyarzabal, Mercedes Martínez-Pardo, Begoña Merinero, et al.
Molecular Genetics and Metabolism|October 3, 2018
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associationsAna Rivera-Barahona, Rosa Navarrete, Raquel García-Rodríguez, et al.
Stem Cell Research|September 20, 2017
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA geneEsmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, et al.
Molecular Genetics and Metabolism|June 21, 2024
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscapeNastassja Himmelreich, Santiago Ramón-Maiques, Rosa Navarrete, et al.
Pageof 4

Showing results (1-10 of 31) with videos related to

Sort By:
Pageof 4
Peerj. Computer Science|September 9, 2021
Efficient processing of complex XSD using Hive and SparkDiana Martinez-Mosquera, Rosa Navarrete, Sergio Luján-Mora
Human Mutation|June 21, 2006
Mutational spectrum of maple syrup urine disease in SpainPilar Rodríguez-Pombo, Rosa Navarrete, Begoña Merinero, et al.
Journal of Human Genetics|October 20, 2006
New splicing mutations in propionic acidemiaLourdes R Desviat, Sonia Clavero, Celia Perez-Cerdá, et al.
Journal of Psychosomatic Research|October 4, 2005
Spanish version of the Delirium Rating Scale-Revised-98: reliability and validityFrancina Fonseca, Antonio Bulbena, Rosa Navarrete, et al.
Journal of Inherited Metabolic Disease|May 1, 2010
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine diseasePaula Fernández-Guerra, Rosa Navarrete, Kara Weisiger, et al.
Molecular Genetics and Metabolism|January 23, 2009
High frequency of large genomic deletions in the PCCA gene causing propionic acidemiaLourdes R Desviat, Rocío Sanchez-Alcudia, Belén Pérez, et al.
Human Mutation|October 23, 2012
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine diseaseAlfonso Oyarzabal, Mercedes Martínez-Pardo, Begoña Merinero, et al.
Molecular Genetics and Metabolism|October 3, 2018
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associationsAna Rivera-Barahona, Rosa Navarrete, Raquel García-Rodríguez, et al.
Stem Cell Research|September 20, 2017
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA geneEsmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, et al.
Molecular Genetics and Metabolism|June 21, 2024
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscapeNastassja Himmelreich, Santiago Ramón-Maiques, Rosa Navarrete, et al.
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