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N Cooper

Showing results (721-730 of 1,439) with videos related to

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Blood Cells, Molecules & Diseases|May 13, 2006
A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regionsFei Xie, Xuefeng Wang, David N Cooper, et al.
Genes|October 11, 2017
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene AssayHao Wu, Arnaud Boulling, David N Cooper, et al.
Current Genomics|July 14, 2020
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those PredictedJian-Min Chen, Jin-Huan Lin, Emmanuelle Masson, et al.
Human Molecular Genetics|August 7, 2015
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patternsTychele N Turner, Christopher Douville, Dewey Kim, et al.
Human Mutation|November 5, 2013
Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombinationKathrin Bengesser, Julia Vogt, Tanja Mussotter, et al.
Database : the Journal of Biological Databases and Curation|June 10, 2016
Mining clinical attributes of genomic variants through assisted literature curation in EgasSérgio Matos, David Campos, Renato Pinho, et al.
Human Genomics|February 23, 2024
Meta-analysis of 46,000 germline de novo mutations linked to human inherited diseaseMónica Lopes-Marques, Matthew Mort, João Carneiro, et al.
Pediatrics|October 28, 2015
Variation in Utilization of Computed Tomography Imaging at Tertiary Pediatric HospitalsDaniel L Lodwick, Jennifer N Cooper, Kelly J Kelleher, et al.
The Journal of Surgical Research|August 24, 2023
Inequities in the Diagnosis of Pediatric Appendicitis in Tertiary Children's Hospitals and the Consequences of Delayed DiagnosisLindsay A Gil, Lindsey Asti, Tariku J Beyene, et al.
The Journal of Surgical Research|July 28, 2023
An Accountable Care Organization Maintains Access for Appendicitis During the COVID-19 PandemicAlicia D Menchaca, Candace C Style, Ling Wang, et al.
Pageof 144

Showing results (721-730 of 1,439) with videos related to

Sort By:
Pageof 144
Blood Cells, Molecules & Diseases|May 13, 2006
A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regionsFei Xie, Xuefeng Wang, David N Cooper, et al.
Genes|October 11, 2017
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene AssayHao Wu, Arnaud Boulling, David N Cooper, et al.
Current Genomics|July 14, 2020
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those PredictedJian-Min Chen, Jin-Huan Lin, Emmanuelle Masson, et al.
Human Molecular Genetics|August 7, 2015
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patternsTychele N Turner, Christopher Douville, Dewey Kim, et al.
Human Mutation|November 5, 2013
Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombinationKathrin Bengesser, Julia Vogt, Tanja Mussotter, et al.
Database : the Journal of Biological Databases and Curation|June 10, 2016
Mining clinical attributes of genomic variants through assisted literature curation in EgasSérgio Matos, David Campos, Renato Pinho, et al.
Human Genomics|February 23, 2024
Meta-analysis of 46,000 germline de novo mutations linked to human inherited diseaseMónica Lopes-Marques, Matthew Mort, João Carneiro, et al.
Pediatrics|October 28, 2015
Variation in Utilization of Computed Tomography Imaging at Tertiary Pediatric HospitalsDaniel L Lodwick, Jennifer N Cooper, Kelly J Kelleher, et al.
The Journal of Surgical Research|August 24, 2023
Inequities in the Diagnosis of Pediatric Appendicitis in Tertiary Children's Hospitals and the Consequences of Delayed DiagnosisLindsay A Gil, Lindsey Asti, Tariku J Beyene, et al.
The Journal of Surgical Research|July 28, 2023
An Accountable Care Organization Maintains Access for Appendicitis During the COVID-19 PandemicAlicia D Menchaca, Candace C Style, Ling Wang, et al.
Pageof 144