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Kelly Schoch

Showing results (31-40 of 69) with videos related to

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Nature Communications|August 11, 2017
Annotating pathogenic non-coding variants in genic regionsSahar Gelfman, Quanli Wang, K Melodi McSweeney, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeVandana Shashi, Kelly Schoch, Rebecca Spillmann, et al.
Journal of Genetic Counseling|March 3, 2018
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases NetworkChristina G S Palmer, Allyn McConkie-Rosell, Ingrid A Holm, et al.
Clinical Genetics|August 27, 2019
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed diseaseAllyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2022
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases NetworkRebecca C Spillmann, Queenie K-G Tan, Chloe Reuter, et al.
Human Mutation|November 1, 2022
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delayHongzheng Dai, Wenmiao Zhu, Bo Yuan, et al.
Human Mutation|July 3, 2019
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposisVandana Shashi, Janelle Geist, Youngha Lee, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological conditionSlavé Petrovski, Vandana Shashi, Steven Petrou, et al.
European Journal of Human Genetics : EJHG|March 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, et al.
Human Molecular Genetics|April 17, 2021
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical featuresXi Luo, Kelly Schoch, Sharayu V Jangam, et al.
Pageof 7

Showing results (31-40 of 69) with videos related to

Sort By:
Pageof 7
Nature Communications|August 11, 2017
Annotating pathogenic non-coding variants in genic regionsSahar Gelfman, Quanli Wang, K Melodi McSweeney, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeVandana Shashi, Kelly Schoch, Rebecca Spillmann, et al.
Journal of Genetic Counseling|March 3, 2018
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases NetworkChristina G S Palmer, Allyn McConkie-Rosell, Ingrid A Holm, et al.
Clinical Genetics|August 27, 2019
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed diseaseAllyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2022
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases NetworkRebecca C Spillmann, Queenie K-G Tan, Chloe Reuter, et al.
Human Mutation|November 1, 2022
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delayHongzheng Dai, Wenmiao Zhu, Bo Yuan, et al.
Human Mutation|July 3, 2019
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposisVandana Shashi, Janelle Geist, Youngha Lee, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological conditionSlavé Petrovski, Vandana Shashi, Steven Petrou, et al.
European Journal of Human Genetics : EJHG|March 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, et al.
Human Molecular Genetics|April 17, 2021
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical featuresXi Luo, Kelly Schoch, Sharayu V Jangam, et al.
Pageof 7