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Kelly Schoch

Showing results (41-50 of 69) with videos related to

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Epileptic Disorders : International Epilepsy Journal with Videotape|June 9, 2016
Epilepsy in KCNH1-related syndromesMario Mastrangelo, Ingrid E Scheffer, Nuria C Bramswig, et al.
BMC Health Services Research|August 24, 2018
Characteristics of undiagnosed diseases network applicants: implications for referring providersNicole M Walley, Loren D M Pena, Stephen R Hooper, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2018
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisCole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, et al.
Molecular Genetics & Genomic Medicine|July 31, 2020
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases NetworkHeidi Cope, Rebecca Spillmann, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
Human Molecular Genetics|April 11, 2022
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorderScott Barish, Mumine Senturk, Kelly Schoch, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 11, 2026
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndromeBusra Aynekin, Tracy Lau, Rauan Kaiyrzhanov, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2015
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 triosXiaolin Zhu, Slavé Petrovski, Pingxing Xie, et al.
Human Molecular Genetics|May 5, 2018
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorderNing Liu, Kelly Schoch, Xi Luo, et al.
Pageof 7

Showing results (41-50 of 69) with videos related to

Sort By:
Pageof 7
Epileptic Disorders : International Epilepsy Journal with Videotape|June 9, 2016
Epilepsy in KCNH1-related syndromesMario Mastrangelo, Ingrid E Scheffer, Nuria C Bramswig, et al.
BMC Health Services Research|August 24, 2018
Characteristics of undiagnosed diseases network applicants: implications for referring providersNicole M Walley, Loren D M Pena, Stephen R Hooper, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2018
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisCole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, et al.
Molecular Genetics & Genomic Medicine|July 31, 2020
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases NetworkHeidi Cope, Rebecca Spillmann, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
Human Molecular Genetics|April 11, 2022
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorderScott Barish, Mumine Senturk, Kelly Schoch, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 11, 2026
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndromeBusra Aynekin, Tracy Lau, Rauan Kaiyrzhanov, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2015
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 triosXiaolin Zhu, Slavé Petrovski, Pingxing Xie, et al.
Human Molecular Genetics|May 5, 2018
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorderNing Liu, Kelly Schoch, Xi Luo, et al.
Pageof 7