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Matthew T Wheeler

Showing results (131-140 of 191) with videos related to

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Journal of Neurogenetics|May 10, 2021
Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.
HGG Advances|March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem ManifestationsRodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Journal of Genetic Counseling|September 4, 2019
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testingChloe M Reuter, Jennefer N Kohler, Devon Bonner, et al.
Nature Genetics|April 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
American Journal of Medical Genetics. Part A|April 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and CounselingAnnie D Niehaus, Devon E Bonner, Jennefer Carter, et al.
JCI Insight|July 22, 2021
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentationDanique Beijer, Hong Joo Kim, Lin Guo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
Lancet (London, England)|September 2, 2020
Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trialIacopo Olivotto, Artur Oreziak, Roberto Barriales-Villa, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
JAMA Cardiology|March 5, 2025
Valsartan and Cardiac Remodeling in Early-Stage Hypertrophic Cardiomyopathy: The VANISH Randomized Clinical Trial Cardiac Magnetic Resonance SubstudyJohn W Ostrominski, Brian L Claggett, Michael Jerosch-Herold, et al.
Pageof 20

Showing results (131-140 of 191) with videos related to

Sort By:
Pageof 20
Journal of Neurogenetics|May 10, 2021
Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.
HGG Advances|March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem ManifestationsRodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Journal of Genetic Counseling|September 4, 2019
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testingChloe M Reuter, Jennefer N Kohler, Devon Bonner, et al.
Nature Genetics|April 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
American Journal of Medical Genetics. Part A|April 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and CounselingAnnie D Niehaus, Devon E Bonner, Jennefer Carter, et al.
JCI Insight|July 22, 2021
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentationDanique Beijer, Hong Joo Kim, Lin Guo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
Lancet (London, England)|September 2, 2020
Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trialIacopo Olivotto, Artur Oreziak, Roberto Barriales-Villa, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
JAMA Cardiology|March 5, 2025
Valsartan and Cardiac Remodeling in Early-Stage Hypertrophic Cardiomyopathy: The VANISH Randomized Clinical Trial Cardiac Magnetic Resonance SubstudyJohn W Ostrominski, Brian L Claggett, Michael Jerosch-Herold, et al.
Pageof 20