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Glenda Beaman

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

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The Journal of Allergy and Clinical Immunology. in Practice|June 20, 2020
Hereditary Alpha-Tryptasemia: UK Prevalence and Variability in Disease ExpressionRebecca C Robey, Amy Wilcock, Hope Bonin, et al.
Journal of Clinical and Translational Science|May 30, 2023
Hereditary renal cancer patient and public involvement group: A collaborative, consensus decision process to develop a communication tool for patient useEllen Colvin, Stephanie Ng, John Hepworth, et al.
Clinical Dysmorphology|December 12, 2022
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrumChloe Jade Ashton, Rahat Perveen, Glenda Beaman, et al.
American Journal of Human Genetics|August 4, 2018
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian CancerD Gareth R Evans, Elke M van Veen, Helen J Byers, et al.
Clinical Genetics|October 6, 2021
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defectsAlistair T Pagnamenta, Adam Jackson, Rahat Perveen, et al.
Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Scientific Reports|February 9, 2017
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract developmentRong Zhang, Michael Knapp, Kentaro Suzuki, et al.
Communications Biology|November 9, 2022
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophyEnrico Mingardo, Glenda Beaman, Philip Grote, et al.
Pageof 1

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

Sort By:
Pageof 1
The Journal of Allergy and Clinical Immunology. in Practice|June 20, 2020
Hereditary Alpha-Tryptasemia: UK Prevalence and Variability in Disease ExpressionRebecca C Robey, Amy Wilcock, Hope Bonin, et al.
Journal of Clinical and Translational Science|May 30, 2023
Hereditary renal cancer patient and public involvement group: A collaborative, consensus decision process to develop a communication tool for patient useEllen Colvin, Stephanie Ng, John Hepworth, et al.
Clinical Dysmorphology|December 12, 2022
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrumChloe Jade Ashton, Rahat Perveen, Glenda Beaman, et al.
American Journal of Human Genetics|August 4, 2018
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian CancerD Gareth R Evans, Elke M van Veen, Helen J Byers, et al.
Clinical Genetics|October 6, 2021
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defectsAlistair T Pagnamenta, Adam Jackson, Rahat Perveen, et al.
Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Scientific Reports|February 9, 2017
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract developmentRong Zhang, Michael Knapp, Kentaro Suzuki, et al.
Communications Biology|November 9, 2022
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophyEnrico Mingardo, Glenda Beaman, Philip Grote, et al.
Pageof 1