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John Burn

Showing results (81-90 of 162) with videos related to

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Gut|June 24, 2020
Management strategies for the colonoscopic surveillance of people with Lynch syndrome during the COVID-19 pandemicKevin J Monahan, Anne Lincoln, James E East, et al.
Brain : a Journal of Neurology|December 5, 2006
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutationPatrick F Chinnery, Douglas E Crompton, Daniel Birchall, et al.
European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.
Cancers|August 12, 2022
Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR AssayRachel Phelps, Richard Gallon, Christine Hayes, et al.
Heart (British Cardiac Society)|October 13, 2010
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variantsHelen R Griffin, Ana Töpf, Elise Glen, et al.
Human Genomics|April 26, 2025
Expression of concern for global biomedical research by the human genome organization (HUGO)Ada Hamosh, Fabiana Arzuaga, Karen B Avraham, et al.
Nature Genetics|July 17, 2007
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthJenny Douglas, Deirdre Cilliers, Kim Coleman, et al.
Blood Cells, Molecules & Diseases|January 28, 2003
Neuroferritinopathy: a window on the role of iron in neurodegenerationDouglas E Crompton, Patrick F Chinnery, Constanze Fey, et al.
BJC Reports|July 4, 2024
A novel colorectal cancer test combining microsatellite instability and <i>BRAF/RAS</i> analysis: Clinical validation and impact on Lynch syndrome screeningRichard Gallon, Patricia Herrero-Belmonte, Rachel Phelps, et al.
NPJ Precision Oncology|May 24, 2024
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variantsRichard Gallon, Carlijn Brekelmans, Marie Martin, et al.
Pageof 17

Showing results (81-90 of 162) with videos related to

Sort By:
Pageof 17
Gut|June 24, 2020
Management strategies for the colonoscopic surveillance of people with Lynch syndrome during the COVID-19 pandemicKevin J Monahan, Anne Lincoln, James E East, et al.
Brain : a Journal of Neurology|December 5, 2006
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutationPatrick F Chinnery, Douglas E Crompton, Daniel Birchall, et al.
European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.
Cancers|August 12, 2022
Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR AssayRachel Phelps, Richard Gallon, Christine Hayes, et al.
Heart (British Cardiac Society)|October 13, 2010
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variantsHelen R Griffin, Ana Töpf, Elise Glen, et al.
Human Genomics|April 26, 2025
Expression of concern for global biomedical research by the human genome organization (HUGO)Ada Hamosh, Fabiana Arzuaga, Karen B Avraham, et al.
Nature Genetics|July 17, 2007
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthJenny Douglas, Deirdre Cilliers, Kim Coleman, et al.
Blood Cells, Molecules & Diseases|January 28, 2003
Neuroferritinopathy: a window on the role of iron in neurodegenerationDouglas E Crompton, Patrick F Chinnery, Constanze Fey, et al.
BJC Reports|July 4, 2024
A novel colorectal cancer test combining microsatellite instability and <i>BRAF/RAS</i> analysis: Clinical validation and impact on Lynch syndrome screeningRichard Gallon, Patricia Herrero-Belmonte, Rachel Phelps, et al.
NPJ Precision Oncology|May 24, 2024
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variantsRichard Gallon, Carlijn Brekelmans, Marie Martin, et al.
Pageof 17