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Rebekah Jobling

Showing results (21-30 of 29) with videos related to

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BMJ Open|September 4, 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populationsGuylaine D'Amours, Marc Clausen, Stephanie Luca, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
Brain : a Journal of Neurology|October 26, 2020
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterationsJorge Diaz, Xavier Gérard, Michel-Boris Emerit, et al.
American Journal of Human Genetics|December 7, 2015
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous DysplasiaMary J Gray, Peter Kannu, Swarkar Sharma, et al.
Human Molecular Genetics|December 4, 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.
American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
Clinical Genetics|November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing dataTaila Hartley, Élisabeth Soubry, Meryl Acker, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
BMJ Open|September 4, 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populationsGuylaine D'Amours, Marc Clausen, Stephanie Luca, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
Brain : a Journal of Neurology|October 26, 2020
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterationsJorge Diaz, Xavier Gérard, Michel-Boris Emerit, et al.
American Journal of Human Genetics|December 7, 2015
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous DysplasiaMary J Gray, Peter Kannu, Swarkar Sharma, et al.
Human Molecular Genetics|December 4, 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.
American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
Clinical Genetics|November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing dataTaila Hartley, Élisabeth Soubry, Meryl Acker, et al.
Pageof 3