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Circulation
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July 19, 2019
Allele-Specific Silencing Ameliorates Restrictive Cardiomyopathy Attributable to a Human Myosin Regulatory Light Chain Mutation
Kathia Zaleta-Rivera, Alexandra Dainis, Alexandre J S Ribeiro, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 5, 2025
Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
Journal of the American Heart Association
|
March 25, 2021
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
Megan J Puckelwartz, Lorenzo L Pesce, Lisa M Dellefave-Castillo, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
|
February 8, 2026
Genetic Diagnosis and Discovery Enabled by Large Language Models
Tao Tu, Khaled Saab, Weida Liu, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Akash Kumar, Diane B Zastrow, Elijah J Kravets, et al.
Frontiers in Cardiovascular Medicine
|
August 12, 2025
Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling
Malene E Lindholm, Sarah Abramowitz, Daryl M Waggott, et al.
Annals of Clinical and Translational Neurology
|
February 4, 2024
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, et al.
European Journal of Heart Failure
|
March 1, 2022
The response to cardiac resynchronization therapy in LMNA cardiomyopathy
Kiran Sidhu, Anna Isotta Castrini, Victoria Parikh, et al.
Biorxiv : the Preprint Server for Biology
|
June 12, 2025
Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy
Yuta Yamamoto, Kaiser Chua, Alexis Ferrasse, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 7, 2026
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association
Laura A Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, et al.
Page
of 19
Search research articles
Search
Showing results (111-120 of 190) with videos related to
Sort By:
Page
of 19
Circulation
|
July 19, 2019
Allele-Specific Silencing Ameliorates Restrictive Cardiomyopathy Attributable to a Human Myosin Regulatory Light Chain Mutation
Kathia Zaleta-Rivera, Alexandra Dainis, Alexandre J S Ribeiro, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 5, 2025
Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
Journal of the American Heart Association
|
March 25, 2021
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
Megan J Puckelwartz, Lorenzo L Pesce, Lisa M Dellefave-Castillo, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
|
February 8, 2026
Genetic Diagnosis and Discovery Enabled by Large Language Models
Tao Tu, Khaled Saab, Weida Liu, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Akash Kumar, Diane B Zastrow, Elijah J Kravets, et al.
Frontiers in Cardiovascular Medicine
|
August 12, 2025
Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling
Malene E Lindholm, Sarah Abramowitz, Daryl M Waggott, et al.
Annals of Clinical and Translational Neurology
|
February 4, 2024
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, et al.
European Journal of Heart Failure
|
March 1, 2022
The response to cardiac resynchronization therapy in LMNA cardiomyopathy
Kiran Sidhu, Anna Isotta Castrini, Victoria Parikh, et al.
Biorxiv : the Preprint Server for Biology
|
June 12, 2025
Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy
Yuta Yamamoto, Kaiser Chua, Alexis Ferrasse, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 7, 2026
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association
Laura A Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, et al.
Page
of 19