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Marta Girdea

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.

Human Mutation|August 22, 2015

The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.

Nucleic Acids Research|November 13, 2013

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.

NPJ Genomic Medicine|June 2, 2017

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.

Pageof 2

Search research articles

Showing results (11-20 of 14) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 14 results.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.

Human Mutation|August 22, 2015

The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.

Nucleic Acids Research|November 13, 2013

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.

NPJ Genomic Medicine|June 2, 2017

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.

Pageof 2