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Helen V Firth

Showing results (101-110 of 116) with videos related to

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Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, 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.
European Journal of Human Genetics : EJHG|August 3, 2018
Registered access: authorizing data accessStephanie O M Dyke, Mikael Linden, Ilkka Lappalainen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resourcesMarina T DiStefano, Scott Goehringer, Lawrence Babb, 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.
European Journal of Human Genetics : EJHG|August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.
Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.
Pageof 12

Showing results (101-110 of 116) with videos related to

Sort By:
Pageof 12
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, 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.
European Journal of Human Genetics : EJHG|August 3, 2018
Registered access: authorizing data accessStephanie O M Dyke, Mikael Linden, Ilkka Lappalainen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resourcesMarina T DiStefano, Scott Goehringer, Lawrence Babb, 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.
European Journal of Human Genetics : EJHG|August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.
Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.
Pageof 12