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Ryan L Davis

Showing results (21-30 of 61) with videos related to

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Thrombosis and Haemostasis|May 1, 2009
Two novel mutations at contiguous codons in the fibrinogen Bbeta chain associated with hypofibrinogenaemiaRyan L Davis, Stephen May, Sanjeev Chunilal, et al.
Haematologica|February 21, 2009
Deletion of five residues from the coiled coil of fibrinogen (Bbeta Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemiaStephen O Brennan, Ryan L Davis, Robin Lowen, et al.
Parkinsonism & Related Disorders|April 4, 2016
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell modelsJin-Sung Park, Brianada Koentjoro, Ryan L Davis, et al.
Human Mutation|October 15, 2008
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatmentRyan L Davis, Vivienne M Homer, Peter M George, et al.
Neurology|December 26, 2022
Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease DiagnosisRyan L Davis, Kishore R Kumar, Eloise C Watson, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|July 30, 2010
Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemiaStephen O Brennan, Ryan L Davis, Katrina Conard, et al.
Frontiers in Nutrition|May 24, 2021
Increased Added Sugar Consumption Is Common in Parkinson's DiseaseNatalie C Palavra, Michal Lubomski, Victoria M Flood, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|January 15, 2024
Genetic Testing of Movements Disorders: A Review of Clinical UtilityDennis Yeow, Laura I Rudaks, Sue-Faye Siow, et al.
Thrombosis and Haemostasis|September 28, 2006
Hypofibrinogenaemia associated with common gamma82Ala-->Gly mutation is not mediated by altered mRNA splicingStephen O Brennan, Vivienne M Homer, Ryan L Davis, et al.
American Journal of Human Genetics|December 24, 2022
Low disease risk and penetrance in Leber hereditary optic neuropathyEloise C Watson, Ryan L Davis, Shyamsundar Ravishankar, et al.
Pageof 7

Showing results (21-30 of 61) with videos related to

Sort By:
Pageof 7
Thrombosis and Haemostasis|May 1, 2009
Two novel mutations at contiguous codons in the fibrinogen Bbeta chain associated with hypofibrinogenaemiaRyan L Davis, Stephen May, Sanjeev Chunilal, et al.
Haematologica|February 21, 2009
Deletion of five residues from the coiled coil of fibrinogen (Bbeta Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemiaStephen O Brennan, Ryan L Davis, Robin Lowen, et al.
Parkinsonism & Related Disorders|April 4, 2016
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell modelsJin-Sung Park, Brianada Koentjoro, Ryan L Davis, et al.
Human Mutation|October 15, 2008
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatmentRyan L Davis, Vivienne M Homer, Peter M George, et al.
Neurology|December 26, 2022
Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease DiagnosisRyan L Davis, Kishore R Kumar, Eloise C Watson, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|July 30, 2010
Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemiaStephen O Brennan, Ryan L Davis, Katrina Conard, et al.
Frontiers in Nutrition|May 24, 2021
Increased Added Sugar Consumption Is Common in Parkinson's DiseaseNatalie C Palavra, Michal Lubomski, Victoria M Flood, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|January 15, 2024
Genetic Testing of Movements Disorders: A Review of Clinical UtilityDennis Yeow, Laura I Rudaks, Sue-Faye Siow, et al.
Thrombosis and Haemostasis|September 28, 2006
Hypofibrinogenaemia associated with common gamma82Ala-->Gly mutation is not mediated by altered mRNA splicingStephen O Brennan, Vivienne M Homer, Ryan L Davis, et al.
American Journal of Human Genetics|December 24, 2022
Low disease risk and penetrance in Leber hereditary optic neuropathyEloise C Watson, Ryan L Davis, Shyamsundar Ravishankar, et al.
Pageof 7