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Richard H Scott

Showing results (31-40 of 56) with videos related to

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Brain Sciences|August 9, 2018
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) MutationJennifer F Gardner, Thomas D Cushion, Georgios Niotakis, et al.
Nature Genetics|October 7, 2008
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumorRichard H Scott, Jenny Douglas, Linda Baskcomb, et al.
Journal of Medical Genetics|September 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable accessSian Ellard, Sian Morgan, Sarah L Wynn, et al.
Nature Genetics|November 3, 2019
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panelsAntonio Rueda Martin, Eleanor Williams, Rebecca E Foulger, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
Oncotarget|April 4, 2012
Stratification of Wilms tumor by genetic and epigenetic analysisRichard H Scott, Anne Murray, Linda Baskcomb, et al.
BMJ (Clinical Research Ed.)|April 26, 2018
The 100 000 Genomes Project: bringing whole genome sequencing to the NHSClare Turnbull, Richard H Scott, Ellen Thomas, et al.
Nature Genetics|May 5, 2009
Common variations in BARD1 influence susceptibility to high-risk neuroblastomaMario Capasso, Marcella Devoto, Cuiping Hou, et al.
Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
Pageof 6

Showing results (31-40 of 56) with videos related to

Sort By:
Pageof 6
Brain Sciences|August 9, 2018
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) MutationJennifer F Gardner, Thomas D Cushion, Georgios Niotakis, et al.
Nature Genetics|October 7, 2008
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumorRichard H Scott, Jenny Douglas, Linda Baskcomb, et al.
Journal of Medical Genetics|September 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable accessSian Ellard, Sian Morgan, Sarah L Wynn, et al.
Nature Genetics|November 3, 2019
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panelsAntonio Rueda Martin, Eleanor Williams, Rebecca E Foulger, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
Oncotarget|April 4, 2012
Stratification of Wilms tumor by genetic and epigenetic analysisRichard H Scott, Anne Murray, Linda Baskcomb, et al.
BMJ (Clinical Research Ed.)|April 26, 2018
The 100 000 Genomes Project: bringing whole genome sequencing to the NHSClare Turnbull, Richard H Scott, Ellen Thomas, et al.
Nature Genetics|May 5, 2009
Common variations in BARD1 influence susceptibility to high-risk neuroblastomaMario Capasso, Marcella Devoto, Cuiping Hou, et al.
Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
Pageof 6