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Marta Girdea

Showing results (1-10 of 14) with videos related to

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Algorithms for Molecular Biology : AMB|January 6, 2010
Back-translation for discovering distant protein homologies in the presence of frameshift mutationsMarta Girdea, Laurent Noe, Gregory Kucherov
Plos One|October 6, 2015
Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function DataJustin Foong, Marta Girdea, James Stavropoulos, et al.
Human Mutation|August 11, 2015
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profilesOrion J Buske, François Schiettecatte, Benjamin Hutton, et al.
Human Mutation|February 15, 2022
PhenomeCentral: 7 years of rare disease matchmakingMatthew Osmond, Taila Hartley, Brittney Johnstone, et al.
Journal of Paediatrics and Child Health|August 12, 2014
Phenotyping: targeting genotype's rich cousin for diagnosisGareth Baynam, Mark Walters, Peter Claes, et al.
Human Mutation|May 3, 2013
PhenoTips: patient phenotyping software for clinical and research useMarta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarrayRobin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, et al.
Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
Frontiers in Medicine|October 28, 2016
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program ExperienceAmanda E Links, David Draper, Elizabeth Lee, 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.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Algorithms for Molecular Biology : AMB|January 6, 2010
Back-translation for discovering distant protein homologies in the presence of frameshift mutationsMarta Girdea, Laurent Noe, Gregory Kucherov
Plos One|October 6, 2015
Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function DataJustin Foong, Marta Girdea, James Stavropoulos, et al.
Human Mutation|August 11, 2015
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profilesOrion J Buske, François Schiettecatte, Benjamin Hutton, et al.
Human Mutation|February 15, 2022
PhenomeCentral: 7 years of rare disease matchmakingMatthew Osmond, Taila Hartley, Brittney Johnstone, et al.
Journal of Paediatrics and Child Health|August 12, 2014
Phenotyping: targeting genotype's rich cousin for diagnosisGareth Baynam, Mark Walters, Peter Claes, et al.
Human Mutation|May 3, 2013
PhenoTips: patient phenotyping software for clinical and research useMarta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarrayRobin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, et al.
Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
Frontiers in Medicine|October 28, 2016
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program ExperienceAmanda E Links, David Draper, Elizabeth Lee, 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.
Pageof 2