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Peter N Robinson

Human mutation

Showing results (1-10 of 20) with videos related to

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Human Mutation|April 17, 2012
Deep phenotyping for precision medicinePeter N Robinson
Human Mutation|April 21, 2017
Once doesn't count: Phenotype-driven gene hunting in cohortsPeter N Robinson
Human Mutation|November 15, 2013
A systematic large-scale phenotypic analysis of de novo and inherited copy number variationPeter N Robinson
Human Mutation|April 27, 2011
Bioinformatics for human genetics: promises and challengesAnnika Lindblom, Peter N Robinson
Human Mutation|August 5, 2015
The genomic birthday paradox: how much is enough?Peter Krawitz, Orion Buske, Na Zhu, et al.
Human Mutation|May 11, 2012
Ontological phenotype standards for neurogeneticsSebastian Köhler, Sandra C Doelken, Ana Rath, et al.
Human Mutation|March 29, 2014
Jannovar: a java library for exome annotationMarten Jäger, Kai Wang, Sebastian Bauer, et al.
Human Mutation|December 2, 2017
Evaluation of exome filtering techniques for the analysis of clinically relevant genesKristin D Kernohan, Taila Hartley, Najmeh Alirezaie, et al.
Human Mutation|August 31, 2002
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesPeter N Robinson, Patrick Booms, Stefanie Katzke, et al.
Human Mutation|May 18, 2006
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfoldingKatrin Wenzel, Miriam Carl, Andreas Perrot, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Human Mutation|April 17, 2012
Deep phenotyping for precision medicinePeter N Robinson
Human Mutation|April 21, 2017
Once doesn't count: Phenotype-driven gene hunting in cohortsPeter N Robinson
Human Mutation|November 15, 2013
A systematic large-scale phenotypic analysis of de novo and inherited copy number variationPeter N Robinson
Human Mutation|April 27, 2011
Bioinformatics for human genetics: promises and challengesAnnika Lindblom, Peter N Robinson
Human Mutation|August 5, 2015
The genomic birthday paradox: how much is enough?Peter Krawitz, Orion Buske, Na Zhu, et al.
Human Mutation|May 11, 2012
Ontological phenotype standards for neurogeneticsSebastian Köhler, Sandra C Doelken, Ana Rath, et al.
Human Mutation|March 29, 2014
Jannovar: a java library for exome annotationMarten Jäger, Kai Wang, Sebastian Bauer, et al.
Human Mutation|December 2, 2017
Evaluation of exome filtering techniques for the analysis of clinically relevant genesKristin D Kernohan, Taila Hartley, Najmeh Alirezaie, et al.
Human Mutation|August 31, 2002
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesPeter N Robinson, Patrick Booms, Stefanie Katzke, et al.
Human Mutation|May 18, 2006
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfoldingKatrin Wenzel, Miriam Carl, Andreas Perrot, et al.
Pageof 2