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Eric V Minikel

Showing results (1-10 of 11) with videos related to

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Neurology. Genetics|May 24, 2019
Antisense oligonucleotides: A primerDaniel R Scoles, Eric V Minikel, Stefan M Pulst
Wellcome Open Research|June 21, 2017
ClinVar data parsingXiaolei Zhang, Eric V Minikel, Anne H O'Donnell-Luria, et al.
Human Mutation|February 24, 2017
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeColleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesRoddy Walsh, Kate L Thomson, James S Ware, et al.
Neurology|June 19, 2024
Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease ConversionSonia M Vallabh, Meredith A Mortberg, Shona W Allen, et al.
Nature Medicine|January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Nature Medicine|May 29, 2020
The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Science (New York, N.Y.)|May 9, 2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptomeManuel A Rivas, Matti Pirinen, Donald F Conrad, et al.
Plos Genetics|May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Plos Genetics|May 26, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Neurology. Genetics|May 24, 2019
Antisense oligonucleotides: A primerDaniel R Scoles, Eric V Minikel, Stefan M Pulst
Wellcome Open Research|June 21, 2017
ClinVar data parsingXiaolei Zhang, Eric V Minikel, Anne H O'Donnell-Luria, et al.
Human Mutation|February 24, 2017
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeColleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesRoddy Walsh, Kate L Thomson, James S Ware, et al.
Neurology|June 19, 2024
Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease ConversionSonia M Vallabh, Meredith A Mortberg, Shona W Allen, et al.
Nature Medicine|January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Nature Medicine|May 29, 2020
The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Science (New York, N.Y.)|May 9, 2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptomeManuel A Rivas, Matti Pirinen, Donald F Conrad, et al.
Plos Genetics|May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Plos Genetics|May 26, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Pageof 2