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Gary Bellus

Showing results (11-20 of 16) with videos related to

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Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Pageof 2