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

Eric Haan

Showing results (61-70 of 75) with videos related to

Pageof 8
Sort By:
Genetics in Medicine Open|December 13, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipRachel Austin, Jaye S Brown, Sarah Casauria, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
Nature Genetics|September 15, 2014
Refining analyses of copy number variation identifies specific genes associated with developmental delayBradley P Coe, Kali Witherspoon, Jill A Rosenfeld, et al.
Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.
Nature Genetics|May 13, 2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentLeanne M Dibbens, Patrick S Tarpey, Kim Hynes, et al.
American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.
Circulation. Genomic and Precision Medicine|December 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating VariantEdgar T Hoorntje, Charlotte Burns, Luisa Marsili, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.
Nature Genetics|April 21, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPatrick S Tarpey, Raffaella Smith, Erin Pleasance, et al.
Science Advances|October 4, 2019
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmissionHui Guo, Ying Li, Lu Shen, et al.
Pageof 8

Showing results (61-70 of 75) with videos related to

Sort By:
Pageof 8
Genetics in Medicine Open|December 13, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipRachel Austin, Jaye S Brown, Sarah Casauria, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
Nature Genetics|September 15, 2014
Refining analyses of copy number variation identifies specific genes associated with developmental delayBradley P Coe, Kali Witherspoon, Jill A Rosenfeld, et al.
Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.
Nature Genetics|May 13, 2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentLeanne M Dibbens, Patrick S Tarpey, Kim Hynes, et al.
American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.
Circulation. Genomic and Precision Medicine|December 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating VariantEdgar T Hoorntje, Charlotte Burns, Luisa Marsili, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.
Nature Genetics|April 21, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPatrick S Tarpey, Raffaella Smith, Erin Pleasance, et al.
Science Advances|October 4, 2019
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmissionHui Guo, Ying Li, Lu Shen, et al.
Pageof 8