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Peter N Robinson

Showing results (51-60 of 348) with videos related to

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Frontiers in Cell and Developmental Biology|July 11, 2024
From transcriptomics to digital twins of organ functionJens Hansen, Abhinav R Jain, Philip Nenov, et al.
BMC Genomics|May 23, 2016
A systematic, large-scale comparison of transcription factor binding site modelsDaniela Hombach, Jana Marie Schwarz, Peter N Robinson, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian familyVanita Vanita, Daljit Singh, Peter N Robinson, et al.
Molecular and Cellular Biochemistry|July 28, 2014
Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genesVanita Vanita, Gao Guo, Daljit Singh, et al.
Human Mutation|May 11, 2012
Ontological phenotype standards for neurogeneticsSebastian Köhler, Sandra C Doelken, Ana Rath, et al.
Bioinformatics (Oxford, England)|August 28, 2016
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing dataVerena Heinrich, Tom Kamphans, Stefan Mundlos, et al.
Nucleic Acids Research|May 7, 2022
Deep phenotyping: symptom annotation made simple with SAMSRobin Steinhaus, Sebastian Proft, Evelyn Seelow, et al.
European Journal of Human Genetics : EJHG|July 1, 2024
Speech and language classification in the human phenotype ontologyAngela T Morgan, Ben Coleman, Adam P Vogel, et al.
American Journal of Human Genetics|October 28, 2008
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary diseasePeter N Robinson, Sebastian Köhler, Sebastian Bauer, et al.
Briefings in Bioinformatics|May 20, 2022
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseasesJulius O B Jacobsen, Catherine Kelly, Valentina Cipriani, et al.
Pageof 35

Showing results (51-60 of 348) with videos related to

Sort By:
Pageof 35
Frontiers in Cell and Developmental Biology|July 11, 2024
From transcriptomics to digital twins of organ functionJens Hansen, Abhinav R Jain, Philip Nenov, et al.
BMC Genomics|May 23, 2016
A systematic, large-scale comparison of transcription factor binding site modelsDaniela Hombach, Jana Marie Schwarz, Peter N Robinson, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian familyVanita Vanita, Daljit Singh, Peter N Robinson, et al.
Molecular and Cellular Biochemistry|July 28, 2014
Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genesVanita Vanita, Gao Guo, Daljit Singh, et al.
Human Mutation|May 11, 2012
Ontological phenotype standards for neurogeneticsSebastian Köhler, Sandra C Doelken, Ana Rath, et al.
Bioinformatics (Oxford, England)|August 28, 2016
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing dataVerena Heinrich, Tom Kamphans, Stefan Mundlos, et al.
Nucleic Acids Research|May 7, 2022
Deep phenotyping: symptom annotation made simple with SAMSRobin Steinhaus, Sebastian Proft, Evelyn Seelow, et al.
European Journal of Human Genetics : EJHG|July 1, 2024
Speech and language classification in the human phenotype ontologyAngela T Morgan, Ben Coleman, Adam P Vogel, et al.
American Journal of Human Genetics|October 28, 2008
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary diseasePeter N Robinson, Sebastian Köhler, Sebastian Bauer, et al.
Briefings in Bioinformatics|May 20, 2022
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseasesJulius O B Jacobsen, Catherine Kelly, Valentina Cipriani, et al.
Pageof 35