CorneliusFBoerkoelMD

Physician

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Office
Translational Medicine Consulting
PO Box 45
Naalehu, HI 96772
Phone+1 808-209-0470

PubMed

490 citations
The Human Phenotype Ontology in 2017
Sebastian Köhler, Nicole Vasilevsky, Mark Engelstad, Erin D. Foster, Julie A. McMurry
Nucleic Acids Research. 2017-01-04
402 citations
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
Hiroshi Takashima, Cornelius F. Boerkoel, Joy John, Gulam Mustafa Saifi, Mustafa A. Salih
Nature Genetics. 2002-09-16
55 citations
Overexpression screens identify conserved dosage chromosome instability genes in yeast and human cancer.
Supipi Duffy, Hok Khim Fam, Yi Kan Wang, Erin B. Styles, Jung-Hyun Kim
Proceedings of the National Academy of Sciences of the United States of America. 2016-09-06

A Mouse Model For Schimke Immuno-Osseous DysplasiaNational Institute Of Diabetes And Digestive And Kidney Diseases2006
A Mouse Model For Schimke Immuno-Osseous DysplasiaNational Institute Of Diabetes And Digestive And Kidney Diseases2005
Characterization Of Smarcal1:Its Expression/InteractorsNational Institute Of Diabetes And Digestive And Kidney Diseases2002–2003
A Murine Model Of Smith-Magenis SyndromeNational Institute Of Diabetes And Digestive And Kidney Diseases1999–2003