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

Weimin Bi

Showing results (131-140 of 138) with videos related to

Pageof 14
Sort By:
You have reached the last page of results.This site can display upto 138 results.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Genome Medicine|October 25, 2025
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2025
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p SyndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
Nature|April 21, 2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineageMichael C Zody, Manuel Garber, David J Adams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
The Journal of Allergy and Clinical Immunology|June 26, 2022
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluationsMorgan N Similuk, Jia Yan, Rajarshi Ghosh, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Pageof 14

Showing results (131-140 of 138) with videos related to

Sort By:
Pageof 14
You have reached the last page of results.This site can display upto 138 results.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Genome Medicine|October 25, 2025
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2025
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p SyndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
Nature|April 21, 2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineageMichael C Zody, Manuel Garber, David J Adams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
The Journal of Allergy and Clinical Immunology|June 26, 2022
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluationsMorgan N Similuk, Jia Yan, Rajarshi Ghosh, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Pageof 14