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Rebekah Jobling

Showing results (11-20 of 29) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2022
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysisJathishinie Jegathisawaran, Kate Tsiplova, Robin Z Hayeems, et al.
Journal of the American Heart Association|September 11, 2025
Yield on Reinterpretation of Genetic Variants in Pediatric CardiomyopathyTakanori Suzuki, Robert Lesurf, Rajadurai Akilen, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testingGregory Costain, Rebekah Jobling, Susan Walker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2025
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trialRobin Z Hayeems, Wendy J Ungar, Christian R Marshall, et al.
Circulation|July 1, 2018
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada SyndromeS Mohsen Hosseini, Raymond Kim, Sharmila Udupa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2018
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of FallotMiriam S Reuter, Rebekah Jobling, Rajiv R Chaturvedi, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2023
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrumJessica R C Priestley, Ashish R Deshwar, Harsha Murthy, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
EMBO Molecular Medicine|April 14, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulationReini E N van der Welle, Rebekah Jobling, Christian Burns, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2022
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysisJathishinie Jegathisawaran, Kate Tsiplova, Robin Z Hayeems, et al.
Journal of the American Heart Association|September 11, 2025
Yield on Reinterpretation of Genetic Variants in Pediatric CardiomyopathyTakanori Suzuki, Robert Lesurf, Rajadurai Akilen, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testingGregory Costain, Rebekah Jobling, Susan Walker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2025
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trialRobin Z Hayeems, Wendy J Ungar, Christian R Marshall, et al.
Circulation|July 1, 2018
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada SyndromeS Mohsen Hosseini, Raymond Kim, Sharmila Udupa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2018
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of FallotMiriam S Reuter, Rebekah Jobling, Rajiv R Chaturvedi, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2023
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrumJessica R C Priestley, Ashish R Deshwar, Harsha Murthy, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
EMBO Molecular Medicine|April 14, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulationReini E N van der Welle, Rebekah Jobling, Christian Burns, et al.
Pageof 3