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N Robinson

Showing results (1241-1250 of 1,318) with videos related to

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Toxicologic Pathology|January 18, 2021
BSTP Review of 12 Case Studies Discussing the Challenges, Pathology, Immunogenicity, and Mechanisms of Inhaled BiologicsA Peter Hall, Jeffrey S Tepper, Molly H Boyle, et al.
American Journal of Human Genetics|July 25, 2017
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal RearrangementsCinthya J Zepeda-Mendoza, Jonas Ibn-Salem, Tammy Kammin, et al.
Human Mutation|February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectWilliam S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
The Journal of Experimental Medicine|February 27, 2013
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndromeDaniel Kotlarz, Natalia Ziętara, Gulbu Uzel, et al.
Nucleic Acids Research|December 1, 2016
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across speciesChristopher J Mungall, Julie A McMurry, Sebastian Köhler, et al.
Genetics|August 13, 2016
Navigating the Phenotype Frontier: The Monarch InitiativeJulie A McMurry, Sebastian Köhler, Nicole L Washington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Cell Genomics|March 21, 2022
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identificationAlex H Wagner, Lawrence Babb, Gil Alterovitz, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
JAMIA Open|January 11, 2021
The case for open science: rare diseasesYaffa R Rubinstein, Peter N Robinson, William A Gahl, et al.
Pageof 132

Showing results (1241-1250 of 1,318) with videos related to

Sort By:
Pageof 132
Toxicologic Pathology|January 18, 2021
BSTP Review of 12 Case Studies Discussing the Challenges, Pathology, Immunogenicity, and Mechanisms of Inhaled BiologicsA Peter Hall, Jeffrey S Tepper, Molly H Boyle, et al.
American Journal of Human Genetics|July 25, 2017
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal RearrangementsCinthya J Zepeda-Mendoza, Jonas Ibn-Salem, Tammy Kammin, et al.
Human Mutation|February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectWilliam S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
The Journal of Experimental Medicine|February 27, 2013
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndromeDaniel Kotlarz, Natalia Ziętara, Gulbu Uzel, et al.
Nucleic Acids Research|December 1, 2016
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across speciesChristopher J Mungall, Julie A McMurry, Sebastian Köhler, et al.
Genetics|August 13, 2016
Navigating the Phenotype Frontier: The Monarch InitiativeJulie A McMurry, Sebastian Köhler, Nicole L Washington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Cell Genomics|March 21, 2022
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identificationAlex H Wagner, Lawrence Babb, Gil Alterovitz, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
JAMIA Open|January 11, 2021
The case for open science: rare diseasesYaffa R Rubinstein, Peter N Robinson, William A Gahl, et al.
Pageof 132