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Carolyn D Applegate

Showing results (1-10 of 21) with videos related to

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Current Protocols|September 21, 2022
Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScoutCarolyn D Applegate, François Schiettecatte, Ada Hamosh, et al.
Molecular Genetics & Genomic Medicine|December 10, 2019
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with lifeTeresa Romeo Luperchio, Carolyn D Applegate, Olaf Bodamer, et al.
JAMA Ophthalmology|August 28, 2015
CRB1-Related Maculopathy With Cystoid Macular EdemaYulia Wolfson, Carolyn D Applegate, Rupert W Strauss, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 22, 2013
A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalitiesMonica E Lemmon, Bennett Lavenstein, Carolyn D Applegate, et al.
Human Genetics|March 23, 2023
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Jacqueline R Harris, Christine W Gao, Jacquelyn F Britton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2014
The impact of chromosomal microarray on clinical management: a retrospective analysisLindsay B Henderson, Carolyn D Applegate, Elizabeth Wohler, et al.
Journal of Genetic Counseling|September 22, 2017
Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research ResultsCourtney Berrios, Cynthia A James, Karen Raraigh, et al.
Neurology. Genetics|February 3, 2026
Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case SeriesKrista S Schatz, Carolyn D Applegate, Allan J Belzberg, et al.
Journal of the American Medical Informatics Association : JAMIA|November 10, 2025
Assessing genetic counseling efficiency with natural language processingMichelle H Nguyen, Carolyn D Applegate, Brittney Murray, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1Jill A Fahrner, Aisha Frazier, Suha Bachir, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Current Protocols|September 21, 2022
Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScoutCarolyn D Applegate, François Schiettecatte, Ada Hamosh, et al.
Molecular Genetics & Genomic Medicine|December 10, 2019
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with lifeTeresa Romeo Luperchio, Carolyn D Applegate, Olaf Bodamer, et al.
JAMA Ophthalmology|August 28, 2015
CRB1-Related Maculopathy With Cystoid Macular EdemaYulia Wolfson, Carolyn D Applegate, Rupert W Strauss, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 22, 2013
A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalitiesMonica E Lemmon, Bennett Lavenstein, Carolyn D Applegate, et al.
Human Genetics|March 23, 2023
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Jacqueline R Harris, Christine W Gao, Jacquelyn F Britton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2014
The impact of chromosomal microarray on clinical management: a retrospective analysisLindsay B Henderson, Carolyn D Applegate, Elizabeth Wohler, et al.
Journal of Genetic Counseling|September 22, 2017
Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research ResultsCourtney Berrios, Cynthia A James, Karen Raraigh, et al.
Neurology. Genetics|February 3, 2026
Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case SeriesKrista S Schatz, Carolyn D Applegate, Allan J Belzberg, et al.
Journal of the American Medical Informatics Association : JAMIA|November 10, 2025
Assessing genetic counseling efficiency with natural language processingMichelle H Nguyen, Carolyn D Applegate, Brittney Murray, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1Jill A Fahrner, Aisha Frazier, Suha Bachir, et al.
Pageof 3