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

J Y Hehir-Kwa

Showing results (1-10 of 7) with videos related to

Pageof 1
Sort By:
Clinical Genetics|July 31, 2013
Pathogenic or not? Assessing the clinical relevance of copy number variantsJ Y Hehir-Kwa, R Pfundt, J A Veltman, et al.
Cytogenetic and Genome Research|September 22, 2011
SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality controlN de Leeuw, J Y Hehir-Kwa, A Simons, et al.
Bioinformatics (Oxford, England)|October 29, 2015
Detecting dispersed duplications in high-throughput sequencing data using a database-free approachM Kroon, E W Lameijer, N Lakenberg, et al.
Journal of Medical Genetics|June 26, 2010
Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysisB H W Faas, I van der Burgt, A J A Kooper, et al.
Human Reproduction (Oxford, England)|October 23, 2008
Constitutional DNA copy number changes in ICSI childrenG H Woldringh, I M Janssen, J Y Hehir-Kwa, et al.
Leukemia|April 20, 2007
High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progressionR P Kuiper, E F P M Schoenmakers, S V van Reijmersdal, et al.
Clinical Genetics|January 12, 2016
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrumS Jansen, T Kleefstra, M H Willemsen, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Clinical Genetics|July 31, 2013
Pathogenic or not? Assessing the clinical relevance of copy number variantsJ Y Hehir-Kwa, R Pfundt, J A Veltman, et al.
Cytogenetic and Genome Research|September 22, 2011
SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality controlN de Leeuw, J Y Hehir-Kwa, A Simons, et al.
Bioinformatics (Oxford, England)|October 29, 2015
Detecting dispersed duplications in high-throughput sequencing data using a database-free approachM Kroon, E W Lameijer, N Lakenberg, et al.
Journal of Medical Genetics|June 26, 2010
Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysisB H W Faas, I van der Burgt, A J A Kooper, et al.
Human Reproduction (Oxford, England)|October 23, 2008
Constitutional DNA copy number changes in ICSI childrenG H Woldringh, I M Janssen, J Y Hehir-Kwa, et al.
Leukemia|April 20, 2007
High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progressionR P Kuiper, E F P M Schoenmakers, S V van Reijmersdal, et al.
Clinical Genetics|January 12, 2016
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrumS Jansen, T Kleefstra, M H Willemsen, et al.
Pageof 1