Publications by authors named "Catherine Hajek"

6Publications

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 01;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

View Article

Download full-text PDF

Source
https://academic.oup.com/nar/advance-article/doi/10.1093/nar
Publisher Site
http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

Interstitial Chromosome 3p13p14 Deletions: An Update and Review.

Mol Syndromol 2018 May 7;9(3):122-133. Epub 2018 Apr 7.

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000488168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006617PMC
May 2018

Genomic Medicine in Primary Care.

Authors:
Catherine Hajek

S D Med 2017 Spec;Spec No:62-65

Internal Medicine, Sanford Health, Sioux Falls, South Dakota.

View Article

Download full-text PDF

Source
November 2017

Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement.

Mol Syndromol 2016 Apr 16;7(1):43-8. Epub 2016 Mar 16.

Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, San Juan Capistrano, Calif., USA; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, Calif., USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000444603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862392PMC
April 2016