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Mark Daly

Showing results (81-90 of 149) with videos related to

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Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.
European Journal of Human Genetics : EJHG|January 28, 2022
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive developmentElisa Rahikkala, Lea Urpa, Bishwa Ghimire, et al.
Hypertension (Dallas, Tex. : 1979)|June 28, 2017
Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish PopulationA Inkeri Lokki, Emma Daly, Michael Triebwasser, et al.
Gastroenterology|November 8, 2020
Altered Intestinal ACE2 Levels Are Associated With Inflammation, Severe Disease, and Response to Anti-Cytokine Therapy in Inflammatory Bowel DiseaseAlka A Potdar, Shishir Dube, Takeo Naito, et al.
Nature Genetics|May 31, 2022
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic diseaseCatherine Tcheandjieu, Ke Xiao, Helio Tejeda, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Metabolome-wide Mendelian randomization characterizes heterogeneous and shared causal effects of metabolites on human healthXianyong Yin, Jack Li, Debraj Bose, et al.
Nature Genetics|June 14, 2011
Variation in genome-wide mutation rates within and between human familiesDonald F Conrad, Jonathan E M Keebler, Mark A DePristo, et al.
Nature Genetics|May 25, 2023
The impact of rare protein coding genetic variation on adult cognitive functionChia-Yen Chen, Ruoyu Tian, Tian Ge, et al.
Molecular Psychiatry|February 2, 2021
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variantsElmo Christian Saarentaus, Aki Samuli Havulinna, Nina Mars, et al.
Elife|August 2, 2022
Integrated analyses of growth differentiation factor-15 concentration and cardiometabolic diseases in humansSusanna Lemmelä, Eleanor M Wigmore, Christian Benner, et al.
Pageof 15

Showing results (81-90 of 149) with videos related to

Sort By:
Pageof 15
Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.
European Journal of Human Genetics : EJHG|January 28, 2022
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive developmentElisa Rahikkala, Lea Urpa, Bishwa Ghimire, et al.
Hypertension (Dallas, Tex. : 1979)|June 28, 2017
Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish PopulationA Inkeri Lokki, Emma Daly, Michael Triebwasser, et al.
Gastroenterology|November 8, 2020
Altered Intestinal ACE2 Levels Are Associated With Inflammation, Severe Disease, and Response to Anti-Cytokine Therapy in Inflammatory Bowel DiseaseAlka A Potdar, Shishir Dube, Takeo Naito, et al.
Nature Genetics|May 31, 2022
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic diseaseCatherine Tcheandjieu, Ke Xiao, Helio Tejeda, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Metabolome-wide Mendelian randomization characterizes heterogeneous and shared causal effects of metabolites on human healthXianyong Yin, Jack Li, Debraj Bose, et al.
Nature Genetics|June 14, 2011
Variation in genome-wide mutation rates within and between human familiesDonald F Conrad, Jonathan E M Keebler, Mark A DePristo, et al.
Nature Genetics|May 25, 2023
The impact of rare protein coding genetic variation on adult cognitive functionChia-Yen Chen, Ruoyu Tian, Tian Ge, et al.
Molecular Psychiatry|February 2, 2021
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variantsElmo Christian Saarentaus, Aki Samuli Havulinna, Nina Mars, et al.
Elife|August 2, 2022
Integrated analyses of growth differentiation factor-15 concentration and cardiometabolic diseases in humansSusanna Lemmelä, Eleanor M Wigmore, Christian Benner, et al.
Pageof 15