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R Chao

Showing results (301-310 of 316) with videos related to

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American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
Nature|June 10, 2026
Improved quantum processor logical error rates via correction and detectionA Paetznick, B W Reichardt, M P da Silva, et al.
Cancer Discovery|June 3, 2015
A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differencesThomas J Hoffmann, Stephen K Van Den Eeden, Lori C Sakoda, et al.
American Journal of Human Genetics|November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric CoresSandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
Cell Genomics|February 13, 2023
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomesKonrad J Karczewski, Matthew Solomonson, Katherine R Chao, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.
American Journal of Human Genetics|December 4, 2018
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Acta Neuropathologica|August 30, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.
Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
Pageof 32

Showing results (301-310 of 316) with videos related to

Sort By:
Pageof 32
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
Nature|June 10, 2026
Improved quantum processor logical error rates via correction and detectionA Paetznick, B W Reichardt, M P da Silva, et al.
Cancer Discovery|June 3, 2015
A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differencesThomas J Hoffmann, Stephen K Van Den Eeden, Lori C Sakoda, et al.
American Journal of Human Genetics|November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric CoresSandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
Cell Genomics|February 13, 2023
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomesKonrad J Karczewski, Matthew Solomonson, Katherine R Chao, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.
American Journal of Human Genetics|December 4, 2018
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Acta Neuropathologica|August 30, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.
Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
Pageof 32