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Rosa Navarrete

Showing results (21-30 of 31) with videos related to

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Human Mutation|March 1, 2017
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseIrene Bravo-Alonso, Rosa Navarrete, Laura Arribas-Carreira, et al.
Epilepsia|January 29, 2013
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic optionBelén Pérez, Luis González Gutiérrez-Solana, Alfonso Verdú, et al.
Human Mutation|April 26, 2020
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemiaDiana Gallego, Fátima Leal, Alejandra Gámez, et al.
Human Mutation|January 23, 2014
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patientsAngels García-Cazorla, Alfonso Oyarzabal, Joana Fort, et al.
Orphanet Journal of Rare Diseases|July 26, 2018
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsSandra Brasil, Fátima Leal, Ana Vega, et al.
JIMD Reports|March 14, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid regionÁlvaro Martín-Rivada, Laura Palomino Pérez, Pedro Ruiz-Sala, et al.
Journal of Clinical Medicine|November 6, 2019
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized TreatmentIrene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, et al.
Science (New York, N.Y.)|November 13, 2010
Effects of rapid global warming at the Paleocene-Eocene boundary on neotropical vegetationCarlos Jaramillo, Diana Ochoa, Lineth Contreras, et al.
European Journal of Human Genetics : EJHG|January 11, 2019
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening programRosa Navarrete, Fátima Leal, Ana I Vega, et al.
Clinical Genetics|January 18, 2019
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in SpainCelia Medrano, Ana Vega, Rosa Navarrete, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Human Mutation|March 1, 2017
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseIrene Bravo-Alonso, Rosa Navarrete, Laura Arribas-Carreira, et al.
Epilepsia|January 29, 2013
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic optionBelén Pérez, Luis González Gutiérrez-Solana, Alfonso Verdú, et al.
Human Mutation|April 26, 2020
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemiaDiana Gallego, Fátima Leal, Alejandra Gámez, et al.
Human Mutation|January 23, 2014
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patientsAngels García-Cazorla, Alfonso Oyarzabal, Joana Fort, et al.
Orphanet Journal of Rare Diseases|July 26, 2018
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsSandra Brasil, Fátima Leal, Ana Vega, et al.
JIMD Reports|March 14, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid regionÁlvaro Martín-Rivada, Laura Palomino Pérez, Pedro Ruiz-Sala, et al.
Journal of Clinical Medicine|November 6, 2019
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized TreatmentIrene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, et al.
Science (New York, N.Y.)|November 13, 2010
Effects of rapid global warming at the Paleocene-Eocene boundary on neotropical vegetationCarlos Jaramillo, Diana Ochoa, Lineth Contreras, et al.
European Journal of Human Genetics : EJHG|January 11, 2019
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening programRosa Navarrete, Fátima Leal, Ana I Vega, et al.
Clinical Genetics|January 18, 2019
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in SpainCelia Medrano, Ana Vega, Rosa Navarrete, et al.
Pageof 4