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Nick Camm

Showing results (1-10 of 11) with videos related to

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Cancer Genetics|June 11, 2021
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architectureChristopher M Watson, Laura A Crinnion, Jennifer Simmonds, et al.
Human Mutation|October 31, 2019
Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndromeChristopher M Watson, Philip Dean, Nick Camm, et al.
Journal of Medical Genetics|November 2, 2010
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherogramsIan M Carr, Nick Camm, Graham R Taylor, et al.
The Journal of Molecular Diagnostics : JMD|September 5, 2017
Characterization and Genomic Localization of a SMAD4 Processed PseudogeneChristopher M Watson, Nick Camm, Laura A Crinnion, et al.
Molecular Diagnosis & Therapy|October 8, 2017
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence ReadsChristopher M Watson, Nick Camm, Laura A Crinnion, et al.
Neuropediatrics|December 19, 2017
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander DiseaseLydia Green, Ian R Berry, Anne-Marie Childs, et al.
Human Mutation|February 4, 2010
Genetic diagnosis of familial breast cancer using clonal sequencingJoanne E Morgan, Ian M Carr, Eamonn Sheridan, et al.
Atherosclerosis|April 23, 2021
Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term planLorna Ingoe, Aimee Potter, Susan Musson, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|September 29, 2020
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertionsChristopher M Watson, Laura A Crinnion, Helen Lindsay, et al.
Human Mutation|December 6, 2013
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interfaceChristopher M Watson, Laura A Crinnion, Joanne E Morgan, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Cancer Genetics|June 11, 2021
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architectureChristopher M Watson, Laura A Crinnion, Jennifer Simmonds, et al.
Human Mutation|October 31, 2019
Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndromeChristopher M Watson, Philip Dean, Nick Camm, et al.
Journal of Medical Genetics|November 2, 2010
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherogramsIan M Carr, Nick Camm, Graham R Taylor, et al.
The Journal of Molecular Diagnostics : JMD|September 5, 2017
Characterization and Genomic Localization of a SMAD4 Processed PseudogeneChristopher M Watson, Nick Camm, Laura A Crinnion, et al.
Molecular Diagnosis & Therapy|October 8, 2017
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence ReadsChristopher M Watson, Nick Camm, Laura A Crinnion, et al.
Neuropediatrics|December 19, 2017
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander DiseaseLydia Green, Ian R Berry, Anne-Marie Childs, et al.
Human Mutation|February 4, 2010
Genetic diagnosis of familial breast cancer using clonal sequencingJoanne E Morgan, Ian M Carr, Eamonn Sheridan, et al.
Atherosclerosis|April 23, 2021
Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term planLorna Ingoe, Aimee Potter, Susan Musson, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|September 29, 2020
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertionsChristopher M Watson, Laura A Crinnion, Helen Lindsay, et al.
Human Mutation|December 6, 2013
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interfaceChristopher M Watson, Laura A Crinnion, Joanne E Morgan, et al.
Pageof 2