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

D Shao

Showing results (81-90 of 90) with videos related to

Pageof 9
Sort By:
You have reached the last page of results.This site can display upto 90 results.
JAMA Network Open|July 20, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset EpilepsyHyun Yong Koh, Lacey Smith, Kimberly N Wiltrout, et al.
Nature|May 14, 2025
Spatial transcriptomics reveals human cortical layer and area specificationXuyu Qian, Kyle Coleman, Shunzhou Jiang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.
Nature Biotechnology|April 19, 2016
Characterizing genomic alterations in cancer by complementary functional associationsJong Wook Kim, Olga B Botvinnik, Omar Abudayyeh, et al.
NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, et al.
JAMA Neurology|July 24, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaShyam K Akula, Allen Y Chen, Jennifer E Neil, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Nature|July 3, 2025
The Somatic Mosaicism across Human Tissues NetworkTim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Pageof 9

Showing results (81-90 of 90) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 90 results.
JAMA Network Open|July 20, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset EpilepsyHyun Yong Koh, Lacey Smith, Kimberly N Wiltrout, et al.
Nature|May 14, 2025
Spatial transcriptomics reveals human cortical layer and area specificationXuyu Qian, Kyle Coleman, Shunzhou Jiang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.
Nature Biotechnology|April 19, 2016
Characterizing genomic alterations in cancer by complementary functional associationsJong Wook Kim, Olga B Botvinnik, Omar Abudayyeh, et al.
NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, et al.
JAMA Neurology|July 24, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaShyam K Akula, Allen Y Chen, Jennifer E Neil, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Nature|July 3, 2025
The Somatic Mosaicism across Human Tissues NetworkTim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Pageof 9