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G Wheeler

Showing results (351-360 of 383) with videos related to

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Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.
Clinical Genetics|May 16, 2023
Novel biallelic variants expand the phenotype of NAA20-related syndromeGianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, et al.
HGG Advances|April 11, 2026
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye SyndromeAnushree Acharya, Irma Järvelä, Andrea Hernandez, et al.
Neurogenetics|March 23, 2016
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic featuresHallie Steinfeld, Megan T Cho, Kyle Retterer, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
American Journal of Medical Genetics. Part A|February 11, 2005
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndromeCheryl Descipio, Lori Schneider, Terri L Young, et al.
Circulation. Heart Failure|February 18, 2017
<i>Kcnj11</i> Ablation Is Associated With Increased Nitro-Oxidative Stress During Ischemia-Reperfusion Injury: Implications for Human Ischemic CardiomyopathyBo Zhang, Tatiana Novitskaya, Debra G Wheeler, et al.
American Journal of Physiology. Heart and Circulatory Physiology|October 14, 2022
Ectonucleoside triphosphate diphosphohydrolase-1 (CD39) impacts TGF-β1 responses: insights into cardiac fibrosis and function following myocardial infarctionTatiana Novitskaya, Shamama Nishat, Roman Covarrubias, et al.
Molecular Cell|January 9, 2026
IFI16 senses and protects stalled replication forksAmelia Gamble, Thomas A Ward, Otto P G Wheeler, et al.
Plos Genetics|October 27, 2018
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and fliesSara Gonçalves, Julie Patat, Maria Clara Guida, et al.
Pageof 39

Showing results (351-360 of 383) with videos related to

Sort By:
Pageof 39
Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.
Clinical Genetics|May 16, 2023
Novel biallelic variants expand the phenotype of NAA20-related syndromeGianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, et al.
HGG Advances|April 11, 2026
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye SyndromeAnushree Acharya, Irma Järvelä, Andrea Hernandez, et al.
Neurogenetics|March 23, 2016
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic featuresHallie Steinfeld, Megan T Cho, Kyle Retterer, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
American Journal of Medical Genetics. Part A|February 11, 2005
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndromeCheryl Descipio, Lori Schneider, Terri L Young, et al.
Circulation. Heart Failure|February 18, 2017
<i>Kcnj11</i> Ablation Is Associated With Increased Nitro-Oxidative Stress During Ischemia-Reperfusion Injury: Implications for Human Ischemic CardiomyopathyBo Zhang, Tatiana Novitskaya, Debra G Wheeler, et al.
American Journal of Physiology. Heart and Circulatory Physiology|October 14, 2022
Ectonucleoside triphosphate diphosphohydrolase-1 (CD39) impacts TGF-β1 responses: insights into cardiac fibrosis and function following myocardial infarctionTatiana Novitskaya, Shamama Nishat, Roman Covarrubias, et al.
Molecular Cell|January 9, 2026
IFI16 senses and protects stalled replication forksAmelia Gamble, Thomas A Ward, Otto P G Wheeler, et al.
Plos Genetics|October 27, 2018
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and fliesSara Gonçalves, Julie Patat, Maria Clara Guida, et al.
Pageof 39