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Kym M Boycott

Showing results (191-200 of 239) with videos related to

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Human Mutation|July 22, 2014
Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
American Journal of Human Genetics|March 20, 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndromeSusan M White, Elizabeth Bhoj, Christoffer Nellåker, et al.
Clinical Genetics|June 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A VariantsEvan Burchfiel, Xiaonan Zhao, Nichole M Owen, et al.
Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
American Journal of Human Genetics|July 22, 2025
The evolution of health data ecosystems: An international surveyJordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Epilepsia|March 21, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptologySebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
JCI Insight|May 23, 2022
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndromeMary E McQuaid, Kashif Ahmed, Stephanie Tran, et al.
Pageof 24

Showing results (191-200 of 239) with videos related to

Sort By:
Pageof 24
Human Mutation|July 22, 2014
Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
American Journal of Human Genetics|March 20, 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndromeSusan M White, Elizabeth Bhoj, Christoffer Nellåker, et al.
Clinical Genetics|June 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A VariantsEvan Burchfiel, Xiaonan Zhao, Nichole M Owen, et al.
Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
American Journal of Human Genetics|July 22, 2025
The evolution of health data ecosystems: An international surveyJordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Epilepsia|March 21, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptologySebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
JCI Insight|May 23, 2022
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndromeMary E McQuaid, Kashif Ahmed, Stephanie Tran, et al.
Pageof 24