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Olatz Villate

Showing results (1-10 of 30) with videos related to

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Clinical Nutrition (Edinburgh, Scotland)|May 21, 2019
Reply-Letter to the Editor-Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance?Luis Aldamiz-Echevarria, Olatz Villate
European Journal of Endocrinology|December 3, 2015
MECHANISMS IN ENDOCRINOLOGY: Alternative splicing: the new frontier in diabetes researchJonàs Juan-Mateu, Olatz Villate, Décio L Eizirik
Cancers|December 11, 2022
Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric CancerPiedad Alba-Pavón, Lide Alaña, Itziar Astigarraga, et al.
Genome Biology and Evolution|November 26, 2013
Complex tissue-specific patterns and distribution of multiple RAGE splice variants in different mammalsRaquel López-Díez, Alberto Rastrojo, Olatz Villate, et al.
Frontiers in Pediatrics|February 21, 2022
RNA Analysis and Clinical Characterization of a Novel Splice Variant in the <i>NSD1</i> Gene Causing Familial Sotos SyndromeOlatz Villate, Hiart Maortua, María-Isabel Tejada, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|July 11, 2018
New CTSA mutation in early infantile galactosialidosisLuis Aldámiz-Echevarría, M Luz Couce, Olatz Villate, et al.
Frontiers in Molecular Biosciences|August 9, 2020
Effect of AGG Interruptions on <i>FMR1</i> Maternal TransmissionsOlatz Villate, Nekane Ibarluzea, Hiart Maortua, et al.
Translational Pediatrics|October 10, 2023
Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromasPiedad Alba-Pavón, Itziar Astigarraga, Lide Alaña, et al.
Molecular Genetics and Metabolism Reports|February 4, 2026
Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral bloodSinziana Stanescu, Olatz Villate, Fernando Andrade, et al.
Frontiers in Genetics|February 14, 2018
Functional Analyses of a Novel Splice Variant in the <i>CHD7</i> Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE SyndromeOlatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, et al.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
Clinical Nutrition (Edinburgh, Scotland)|May 21, 2019
Reply-Letter to the Editor-Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance?Luis Aldamiz-Echevarria, Olatz Villate
European Journal of Endocrinology|December 3, 2015
MECHANISMS IN ENDOCRINOLOGY: Alternative splicing: the new frontier in diabetes researchJonàs Juan-Mateu, Olatz Villate, Décio L Eizirik
Cancers|December 11, 2022
Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric CancerPiedad Alba-Pavón, Lide Alaña, Itziar Astigarraga, et al.
Genome Biology and Evolution|November 26, 2013
Complex tissue-specific patterns and distribution of multiple RAGE splice variants in different mammalsRaquel López-Díez, Alberto Rastrojo, Olatz Villate, et al.
Frontiers in Pediatrics|February 21, 2022
RNA Analysis and Clinical Characterization of a Novel Splice Variant in the <i>NSD1</i> Gene Causing Familial Sotos SyndromeOlatz Villate, Hiart Maortua, María-Isabel Tejada, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|July 11, 2018
New CTSA mutation in early infantile galactosialidosisLuis Aldámiz-Echevarría, M Luz Couce, Olatz Villate, et al.
Frontiers in Molecular Biosciences|August 9, 2020
Effect of AGG Interruptions on <i>FMR1</i> Maternal TransmissionsOlatz Villate, Nekane Ibarluzea, Hiart Maortua, et al.
Translational Pediatrics|October 10, 2023
Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromasPiedad Alba-Pavón, Itziar Astigarraga, Lide Alaña, et al.
Molecular Genetics and Metabolism Reports|February 4, 2026
Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral bloodSinziana Stanescu, Olatz Villate, Fernando Andrade, et al.
Frontiers in Genetics|February 14, 2018
Functional Analyses of a Novel Splice Variant in the <i>CHD7</i> Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE SyndromeOlatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, et al.
Pageof 3