Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Iria Roca

Showing results (1-10 of 13) with videos related to

Pageof 2
Sort By:
International Journal of Molecular Sciences|June 5, 2018
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding GenesIria Roca, Ana Fernández-Marmiesse, Sofía Gouveia, et al.
Mutation Research. Reviews in Mutation Research|May 18, 2019
Free-access copy-number variant detection tools for targeted next-generation sequencing dataIria Roca, Lorena González-Castro, Helena Fernández, et al.
Medicine|February 3, 2018
Arterial stiffness assessment in patients with phenylketonuriaAlvaro Hermida-Ameijeiras, Vanesa Crujeiras, Iria Roca, et al.
Scientific Reports|November 28, 2017
Similarities between acylcarnitine profiles in large for gestational age newborns and obesityPaula Sánchez-Pintos, Maria-Jose de Castro, Iria Roca, et al.
Genomics|July 27, 2019
PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposesIria Roca, Lorena González-Castro, Joan Maynou, et al.
Data in Brief|September 1, 2015
Micronutrient in hyperphenylalaninemiaVanesa Crujeiras, Luís Aldámiz-Echevarría, Jaume Dalmau, et al.
Molecular Genetics and Metabolism|July 1, 2015
Vitamin and mineral status in patients with hyperphenylalaninemiaVanesa Crujeiras, Luis Aldámiz-Echevarría, Jaime Dalmau, et al.
Orphanet Journal of Rare Diseases|September 11, 2016
Lipid profile status and other related factors in patients with HyperphenylalaninaemiaMaría L Couce, Isidro Vitoria, Luís Aldámiz-Echevarría, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 13, 2018
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorderAna Fernández-Marmiesse, Hirofumi Kusumoto, Saray Rekarte, et al.
European Journal of Human Genetics : EJHG|September 29, 2016
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathySonia Emperador, M Pilar Bayona-Bafaluy, Ana Fernández-Marmiesse, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
International Journal of Molecular Sciences|June 5, 2018
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding GenesIria Roca, Ana Fernández-Marmiesse, Sofía Gouveia, et al.
Mutation Research. Reviews in Mutation Research|May 18, 2019
Free-access copy-number variant detection tools for targeted next-generation sequencing dataIria Roca, Lorena González-Castro, Helena Fernández, et al.
Medicine|February 3, 2018
Arterial stiffness assessment in patients with phenylketonuriaAlvaro Hermida-Ameijeiras, Vanesa Crujeiras, Iria Roca, et al.
Scientific Reports|November 28, 2017
Similarities between acylcarnitine profiles in large for gestational age newborns and obesityPaula Sánchez-Pintos, Maria-Jose de Castro, Iria Roca, et al.
Genomics|July 27, 2019
PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposesIria Roca, Lorena González-Castro, Joan Maynou, et al.
Data in Brief|September 1, 2015
Micronutrient in hyperphenylalaninemiaVanesa Crujeiras, Luís Aldámiz-Echevarría, Jaume Dalmau, et al.
Molecular Genetics and Metabolism|July 1, 2015
Vitamin and mineral status in patients with hyperphenylalaninemiaVanesa Crujeiras, Luis Aldámiz-Echevarría, Jaime Dalmau, et al.
Orphanet Journal of Rare Diseases|September 11, 2016
Lipid profile status and other related factors in patients with HyperphenylalaninaemiaMaría L Couce, Isidro Vitoria, Luís Aldámiz-Echevarría, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 13, 2018
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorderAna Fernández-Marmiesse, Hirofumi Kusumoto, Saray Rekarte, et al.
European Journal of Human Genetics : EJHG|September 29, 2016
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathySonia Emperador, M Pilar Bayona-Bafaluy, Ana Fernández-Marmiesse, et al.
Pageof 2