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Jayne Hehir-Kwa

Showing results (1-10 of 8) with videos related to

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Cell Genomics|November 14, 2024
Meet the author: Jayne Hehir-KwaJayne Hehir-Kwa
Expert Review of Molecular Diagnostics|October 28, 2014
Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratoriesDjie Tjwan Thung, Lean Beulen, Jayne Hehir-Kwa, et al.
Genome Research|August 9, 2008
Reduced purifying selection prevails over positive selection in human copy number variant evolutionDuc-Quang Nguyen, Caleb Webber, Jayne Hehir-Kwa, et al.
Genome Research|April 19, 2015
The clustering of functionally related genes contributes to CNV-mediated diseaseTallulah Andrews, Frantisek Honti, Rolph Pfundt, et al.
Plos Genetics|March 18, 2015
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disordersTallulah Andrews, Stephen Meader, Anneke Vulto-van Silfhout, et al.
Clinical Chemistry|December 16, 2016
BRCA Testing by Single-Molecule Molecular Inversion ProbesKornelia Neveling, Arjen R Mensenkamp, Ronny Derks, et al.
American Journal of Human Genetics|February 29, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental DisordersSónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, et al.
Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Cell Genomics|November 14, 2024
Meet the author: Jayne Hehir-KwaJayne Hehir-Kwa
Expert Review of Molecular Diagnostics|October 28, 2014
Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratoriesDjie Tjwan Thung, Lean Beulen, Jayne Hehir-Kwa, et al.
Genome Research|August 9, 2008
Reduced purifying selection prevails over positive selection in human copy number variant evolutionDuc-Quang Nguyen, Caleb Webber, Jayne Hehir-Kwa, et al.
Genome Research|April 19, 2015
The clustering of functionally related genes contributes to CNV-mediated diseaseTallulah Andrews, Frantisek Honti, Rolph Pfundt, et al.
Plos Genetics|March 18, 2015
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disordersTallulah Andrews, Stephen Meader, Anneke Vulto-van Silfhout, et al.
Clinical Chemistry|December 16, 2016
BRCA Testing by Single-Molecule Molecular Inversion ProbesKornelia Neveling, Arjen R Mensenkamp, Ronny Derks, et al.
American Journal of Human Genetics|February 29, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental DisordersSónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, et al.
Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Pageof 1