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Matthew T Wheeler

Showing results (181-190 of 191) with videos related to

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Circulation. Genomic and Precision Medicine|December 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating VariantEdgar T Hoorntje, Charlotte Burns, Luisa Marsili, et al.
American Journal of Human Genetics|February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.
Nucleic Acids Research|November 27, 2018
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesSebastian Köhler, Leigh Carmody, Nicole Vasilevsky, et al.
Nature Communications|August 30, 2022
Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategyVictoria N Parikh, Alexander G Ioannidis, David Jimenez-Morales, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
The Common Fund Data Ecosystem (CFDE)Julie A Jurgens, Andreas Bueckle, Jeet Vora, et al.
Journal of Applied Physiology (Bethesda, Md. : 1985)|April 18, 2024
Molecular Transducers of Physical Activity Consortium (MoTrPAC): human studies design and protocol, John M Jakicic, Wendy M Kohrt, et al.
Nature Genetics|May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Pageof 20

Showing results (181-190 of 191) with videos related to

Sort By:
Pageof 20
Circulation. Genomic and Precision Medicine|December 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating VariantEdgar T Hoorntje, Charlotte Burns, Luisa Marsili, et al.
American Journal of Human Genetics|February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.
Nucleic Acids Research|November 27, 2018
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesSebastian Köhler, Leigh Carmody, Nicole Vasilevsky, et al.
Nature Communications|August 30, 2022
Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategyVictoria N Parikh, Alexander G Ioannidis, David Jimenez-Morales, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
The Common Fund Data Ecosystem (CFDE)Julie A Jurgens, Andreas Bueckle, Jeet Vora, et al.
Journal of Applied Physiology (Bethesda, Md. : 1985)|April 18, 2024
Molecular Transducers of Physical Activity Consortium (MoTrPAC): human studies design and protocol, John M Jakicic, Wendy M Kohrt, et al.
Nature Genetics|May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Pageof 20