Search filters

List of works by Cynthia L Neben

A scalable, aggregated genotypic-phenotypic database for human disease variation

scientific article published on 01 January 2019

Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription

scientific article

Cell fate specification in the lingual epithelium is controlled by antagonistic activities of Sonic hedgehog and retinoic acid.

scientific article

FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.

scientific article published on 8 June 2017

Feedback regulation of RTK signaling in development.

scientific article published on 25 October 2017

Modeling craniofacial and skeletal congenital birth defects to advance therapies.

scientific article published on 26 June 2016

Rare variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

scientific article published on 19 December 2018

Ribosome biogenesis is dynamically regulated during osteoblast differentiation

scientific article published on 12 November 2016

Signaling Pathways in Craniofacial Development: Insights from Rare Skeletal Disorders

scientific article published on 23 October 2015

The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.

scientific article published on 22 July 2016

tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis-Cincinnati type

scientific article published on 01 August 2018

Paulina is supported by:

About Paulina

Help