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

Eric Vilain

Showing results (141-150 of 177) with videos related to

Pageof 18
Sort By:
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
The Journal of Clinical Endocrinology and Metabolism|November 11, 2014
Exome sequencing for the diagnosis of 46,XY disorders of sex developmentRuth M Baxter, Valerie A Arboleda, Hane Lee, et al.
American Journal of Human Genetics|January 25, 2025
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Nature Communications|September 6, 2024
Glutathione peroxidase 3 is a potential biomarker for konzoMatthew S Bramble, Victor Fourcassié, Neerja Vashist, et al.
Nature Communications|September 11, 2021
The gut microbiome in konzoMatthew S Bramble, Neerja Vashist, Arthur Ko, et al.
Genome Research|March 9, 2019
Long-read single-molecule maps of the functional methylomeHila Sharim, Assaf Grunwald, Tslil Gabrieli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
JAMA|October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disordersHane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.
Human Molecular Genetics|July 6, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.
Pageof 18

Showing results (141-150 of 177) with videos related to

Sort By:
Pageof 18
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
The Journal of Clinical Endocrinology and Metabolism|November 11, 2014
Exome sequencing for the diagnosis of 46,XY disorders of sex developmentRuth M Baxter, Valerie A Arboleda, Hane Lee, et al.
American Journal of Human Genetics|January 25, 2025
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Nature Communications|September 6, 2024
Glutathione peroxidase 3 is a potential biomarker for konzoMatthew S Bramble, Victor Fourcassié, Neerja Vashist, et al.
Nature Communications|September 11, 2021
The gut microbiome in konzoMatthew S Bramble, Neerja Vashist, Arthur Ko, et al.
Genome Research|March 9, 2019
Long-read single-molecule maps of the functional methylomeHila Sharim, Assaf Grunwald, Tslil Gabrieli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
JAMA|October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disordersHane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.
Human Molecular Genetics|July 6, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.
Pageof 18