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M Pena

Showing results (231-240 of 245) with videos related to

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The Journal of Biological Chemistry|May 28, 2026
KMT2D depletion promotes KRAS-induced pancreatic carcinogenesis independent of TP53Ezequiel J Tolosa, Glancis L Raja Arul, Ashley N Sigafoos, et al.
Science Advances|January 19, 2022
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signalingPaul C Marcogliese, Debdeep Dutta, Shrestha Sinha Ray, et al.
Molecular Genetics and Metabolism|July 31, 2016
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY StudyAns van der Ploeg, Pierre G Carlier, Robert-Yves Carlier, et al.
Journal of Inherited Metabolic Disease|March 16, 2019
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trialJohan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, et al.
Journal of Inherited Metabolic Disease|June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Human Molecular Genetics|May 5, 2018
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorderNing Liu, Kelly Schoch, Xi Luo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesLoren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.
American Journal of Medical Genetics. Part A|May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrumKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
American Journal of Human Genetics|January 7, 2017
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
American Journal of Human Genetics|October 4, 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
Pageof 25

Showing results (231-240 of 245) with videos related to

Sort By:
Pageof 25
The Journal of Biological Chemistry|May 28, 2026
KMT2D depletion promotes KRAS-induced pancreatic carcinogenesis independent of TP53Ezequiel J Tolosa, Glancis L Raja Arul, Ashley N Sigafoos, et al.
Science Advances|January 19, 2022
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signalingPaul C Marcogliese, Debdeep Dutta, Shrestha Sinha Ray, et al.
Molecular Genetics and Metabolism|July 31, 2016
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY StudyAns van der Ploeg, Pierre G Carlier, Robert-Yves Carlier, et al.
Journal of Inherited Metabolic Disease|March 16, 2019
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trialJohan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, et al.
Journal of Inherited Metabolic Disease|June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Human Molecular Genetics|May 5, 2018
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorderNing Liu, Kelly Schoch, Xi Luo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesLoren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.
American Journal of Medical Genetics. Part A|May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrumKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
American Journal of Human Genetics|January 7, 2017
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
American Journal of Human Genetics|October 4, 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
Pageof 25