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

Alba Sanchis-Juan

Showing results (1-10 of 56) with videos related to

Pageof 6
Sort By:
Genome Research|November 9, 2022
Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autismDale J Annear, Geert Vandeweyer, Alba Sanchis-Juan, et al.
Scientific Reports|January 29, 2021
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological diseaseDale J Annear, Geert Vandeweyer, Ellen Elinck, et al.
Journal of Advanced Research|November 2, 2022
Improvement of large copy number variant detection by whole genome nanopore sequencingJavier Cuenca-Guardiola, Belén de la Morena-Barrio, Juan L García, et al.
Journal of Molecular Biology|November 21, 2022
Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding ProteinsMarcia A Hasenahuer, Alba Sanchis-Juan, Roman A Laskowski, et al.
Frontiers in Genetics|July 19, 2019
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual DisabilityAlba Sanchis-Juan, Christina Bitsara, Kay Yi Low, et al.
Nucleic Acids Research|August 24, 2021
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseasesThiloka E Ratnaike, Daniel Greene, Wei Wei, et al.
Molecular Genetics & Genomic Medicine|April 30, 2020
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gateAlba Sanchis-Juan, Marcia A Hasenahuer, James A Baker, et al.
Intensive Care Medicine|March 9, 2019
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill childrenCourtney E French, Isabelle Delon, Helen Dolling, et al.
Nature Communications|April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Nature Communications|July 24, 2020
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Pageof 6

Showing results (1-10 of 56) with videos related to

Sort By:
Pageof 6
Genome Research|November 9, 2022
Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autismDale J Annear, Geert Vandeweyer, Alba Sanchis-Juan, et al.
Scientific Reports|January 29, 2021
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological diseaseDale J Annear, Geert Vandeweyer, Ellen Elinck, et al.
Journal of Advanced Research|November 2, 2022
Improvement of large copy number variant detection by whole genome nanopore sequencingJavier Cuenca-Guardiola, Belén de la Morena-Barrio, Juan L García, et al.
Journal of Molecular Biology|November 21, 2022
Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding ProteinsMarcia A Hasenahuer, Alba Sanchis-Juan, Roman A Laskowski, et al.
Frontiers in Genetics|July 19, 2019
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual DisabilityAlba Sanchis-Juan, Christina Bitsara, Kay Yi Low, et al.
Nucleic Acids Research|August 24, 2021
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseasesThiloka E Ratnaike, Daniel Greene, Wei Wei, et al.
Molecular Genetics & Genomic Medicine|April 30, 2020
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gateAlba Sanchis-Juan, Marcia A Hasenahuer, James A Baker, et al.
Intensive Care Medicine|March 9, 2019
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill childrenCourtney E French, Isabelle Delon, Helen Dolling, et al.
Nature Communications|April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Nature Communications|July 24, 2020
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Pageof 6