Rachel C Lombardo

Publication Activity (10 Years)

Years Active: 2017-2019
Publications (10 Years): 3

Top Topics

Patient Reported

Peritoneal Dialysis

Transcription Factor

Top Venues

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Deema Aljeaid, Rachel C Lombardo, David P Witte, Robert J Hopkin
A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. American journal of medical genetics. Part A 179 (6) (2019)
Cathy A Stevens, Jacob S Hogue, Robert J Hopkin, Rachel C Lombardo, Samantha A Schrier Vergano
Congenital lumbar hernia-A feature of diabetic embryopathy? American journal of medical genetics. Part A 176 (11) (2018)
Rachel C Lombardo, Elizabeth Kramer, James F Cnota, Hemant Sawnani, Robert J Hopkin
Variable phenotype in a novel mutation in PHOX2B. American journal of medical genetics. Part A 173 (6) (2017)