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Declan O'Rourke

Showing results (41-50 of 47) with videos related to

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Diabetes/Metabolism Research and Reviews|May 17, 2022
Clinical features and predictive biomarkers for bladder cancer in patients with type 2 diabetes presenting with haematuriaClaire L Tonry, Raymond M Evans, Mark W Ruddock, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 7, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort studyYannay Khaikin, Sarah Sidky, Jose Abdenur, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.
Journal of Neuromuscular Diseases|June 14, 2021
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD TrialRichard S Finkel, Craig M McDonald, H Lee Sweeney, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
Brain Communications|November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.
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Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
Diabetes/Metabolism Research and Reviews|May 17, 2022
Clinical features and predictive biomarkers for bladder cancer in patients with type 2 diabetes presenting with haematuriaClaire L Tonry, Raymond M Evans, Mark W Ruddock, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 7, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort studyYannay Khaikin, Sarah Sidky, Jose Abdenur, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.
Journal of Neuromuscular Diseases|June 14, 2021
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD TrialRichard S Finkel, Craig M McDonald, H Lee Sweeney, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
Brain Communications|November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.
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