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Peter N Robinson

Showing results (81-90 of 348) with videos related to

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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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2024
Leveraging clinical intuition to improve accuracy of phenotype-driven prioritizationMartha A Beckwith, Daniel Danis, Yasemin Bridges, et al.
NPJ Genomic Medicine|November 4, 2024
Alternative splicing is coupled to gene expression in a subset of variably expressed genesGuy Karlebach, Robin Steinhaus, Daniel Danis, et al.
NAR Genomics and Bioinformatics|December 11, 2024
Using paired-end read orientations to assess technical biases in capture Hi-CPeter Hansen, Hannah Blau, Jochen Hecht, et al.
Biorxiv : the Preprint Server for Biology|July 3, 2023
Alternative splicing is coupled to gene expression in a subset of variably expressed genesGuy Karlebach, Robin Steinhaus, Daniel Danis, et al.
The International Journal of Biochemistry & Cell Biology|September 15, 2005
Calcium-dependent self-association of the C-type lectin domain of versicanAndreas Ney, Patrick Booms, Guido Epple, et al.
Studies in Health Technology and Informatics|August 8, 2013
Integrating the human phenotype ontology into HeTOP terminology-ontology serverJulien Grosjean, Tayeb Merabti, Lina F Soualmia, et al.
The Journal of Allergy and Clinical Immunology. in Practice|May 12, 2020
Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) termsLukas M Gasteiger, Peter N Robinson, Julia Pazmandi, et al.
Bone|April 14, 2018
Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analysesLayal Abo Khayal, Johannes Grünhagen, Ivo Provazník, et al.
Journal of Biomedical Semantics|August 6, 2014
The influence of disease categories on gene candidate predictions from model organism phenotypesAnika Oellrich, Sebastian Koehler, Nicole Washington, et al.
Pageof 35

Showing results (81-90 of 348) with videos related to

Sort By:
Pageof 35
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2024
Leveraging clinical intuition to improve accuracy of phenotype-driven prioritizationMartha A Beckwith, Daniel Danis, Yasemin Bridges, et al.
NPJ Genomic Medicine|November 4, 2024
Alternative splicing is coupled to gene expression in a subset of variably expressed genesGuy Karlebach, Robin Steinhaus, Daniel Danis, et al.
NAR Genomics and Bioinformatics|December 11, 2024
Using paired-end read orientations to assess technical biases in capture Hi-CPeter Hansen, Hannah Blau, Jochen Hecht, et al.
Biorxiv : the Preprint Server for Biology|July 3, 2023
Alternative splicing is coupled to gene expression in a subset of variably expressed genesGuy Karlebach, Robin Steinhaus, Daniel Danis, et al.
The International Journal of Biochemistry & Cell Biology|September 15, 2005
Calcium-dependent self-association of the C-type lectin domain of versicanAndreas Ney, Patrick Booms, Guido Epple, et al.
Studies in Health Technology and Informatics|August 8, 2013
Integrating the human phenotype ontology into HeTOP terminology-ontology serverJulien Grosjean, Tayeb Merabti, Lina F Soualmia, et al.
The Journal of Allergy and Clinical Immunology. in Practice|May 12, 2020
Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) termsLukas M Gasteiger, Peter N Robinson, Julia Pazmandi, et al.
Bone|April 14, 2018
Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analysesLayal Abo Khayal, Johannes Grünhagen, Ivo Provazník, et al.
Journal of Biomedical Semantics|August 6, 2014
The influence of disease categories on gene candidate predictions from model organism phenotypesAnika Oellrich, Sebastian Koehler, Nicole Washington, et al.
Pageof 35