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Shira Rockowitz

Showing results (51-60 of 59) with videos related to

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JCI Insight|June 8, 2026
FOXC2 and WT1 regulate transcriptional reprogramming during the podocyte response to injurySandrine Ettou, Anya Greenberg, Sangyoon Lee, et al.
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.
Annals of Clinical and Translational Neurology|January 25, 2022
Mendelian etiologies identified with whole exome sequencing in cerebral palsyMaya Chopra, Dustin L Gable, Jamie Love-Nichols, 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.
The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Advanced Genetics (Hoboken, N.J.)|December 31, 2025
Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)Catherine A Brownstein, Caspar I van der Made, Kristin Cabral, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Pageof 6

Showing results (51-60 of 59) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 59 results.
JCI Insight|June 8, 2026
FOXC2 and WT1 regulate transcriptional reprogramming during the podocyte response to injurySandrine Ettou, Anya Greenberg, Sangyoon Lee, et al.
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.
Annals of Clinical and Translational Neurology|January 25, 2022
Mendelian etiologies identified with whole exome sequencing in cerebral palsyMaya Chopra, Dustin L Gable, Jamie Love-Nichols, 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.
The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Advanced Genetics (Hoboken, N.J.)|December 31, 2025
Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)Catherine A Brownstein, Caspar I van der Made, Kristin Cabral, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Pageof 6