Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Rob Willemsen

Showing results (141-150 of 157) with videos related to

Pageof 16
Sort By:
European Journal of Human Genetics : EJHG|January 28, 2018
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disabilityAnnemieke J M H Verkerk, Shimriet Zeidler, Guido Breedveld, et al.
Frontiers in Genetics|November 24, 2016
A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family StudyClaudia T Silva, Irina V Zorkoltseva, Najaf Amin, et al.
Human Molecular Genetics|October 24, 2013
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old ageAdriana I Iglesias, Henriët Springelkamp, Herma van der Linde, et al.
BMC Medical Genomics|March 7, 2018
A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophyClaudia Tamar Silva, Irina V Zorkoltseva, Maartje N Niemeijer, et al.
JCI Insight|August 10, 2023
Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organizationClaudine Wb Ruijmbeek, Filomena Housley, Hafiza Idrees, et al.
Brain : a Journal of Neurology|April 12, 2014
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathologyTsz Hang Wong, Wang Zheng Chiu, Guido J Breedveld, et al.
Cell|May 15, 2012
Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortexKenneth Y Kwan, Mandy M S Lam, Matthew B Johnson, et al.
Neuron|January 10, 2017
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia SyndromeChantal Sellier, Ronald A M Buijsen, Fang He, et al.
American Journal of Human Genetics|June 30, 2009
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsyAnnemieke J M H Verkerk, Rachel Schot, Belinda Dumee, et al.
Brain : a Journal of Neurology|February 4, 2012
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansionsJavier Simón-Sánchez, Elise G P Dopper, Petra E Cohn-Hokke, et al.
Pageof 16

Showing results (141-150 of 157) with videos related to

Sort By:
Pageof 16
European Journal of Human Genetics : EJHG|January 28, 2018
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disabilityAnnemieke J M H Verkerk, Shimriet Zeidler, Guido Breedveld, et al.
Frontiers in Genetics|November 24, 2016
A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family StudyClaudia T Silva, Irina V Zorkoltseva, Najaf Amin, et al.
Human Molecular Genetics|October 24, 2013
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old ageAdriana I Iglesias, Henriët Springelkamp, Herma van der Linde, et al.
BMC Medical Genomics|March 7, 2018
A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophyClaudia Tamar Silva, Irina V Zorkoltseva, Maartje N Niemeijer, et al.
JCI Insight|August 10, 2023
Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organizationClaudine Wb Ruijmbeek, Filomena Housley, Hafiza Idrees, et al.
Brain : a Journal of Neurology|April 12, 2014
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathologyTsz Hang Wong, Wang Zheng Chiu, Guido J Breedveld, et al.
Cell|May 15, 2012
Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortexKenneth Y Kwan, Mandy M S Lam, Matthew B Johnson, et al.
Neuron|January 10, 2017
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia SyndromeChantal Sellier, Ronald A M Buijsen, Fang He, et al.
American Journal of Human Genetics|June 30, 2009
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsyAnnemieke J M H Verkerk, Rachel Schot, Belinda Dumee, et al.
Brain : a Journal of Neurology|February 4, 2012
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansionsJavier Simón-Sánchez, Elise G P Dopper, Petra E Cohn-Hokke, et al.
Pageof 16