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Human Mutation|November 8, 2006
Schimke immunoosseous dysplasia: suggestions of genetic diversityJ Marietta Clewing, Helen Fryssira, David Goodman, et al.Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.Nucleic Acids Research|November 27, 2018
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesSebastian Köhler, Leigh Carmody, Nicole Vasilevsky, et al.American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.Pageof 14