Deborah L Stabley

Publication Activity (10 Years)

Years Active: 2020-2021
Publications (10 Years): 2

Top Topics

Tyrosine Kinase

Top Venues

European journal of human genetics : EJHG

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

Publications

Deborah L Stabley, Jennifer Holbrook, Mena Scavina, Thomas O Crawford, Kathryn J Swoboda, Katherine M Robbins, Matthew E R Butchbach
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics 22 (1) (2021)
Karen W Gripp, Laura Baker, Katherine M Robbins, Deborah L Stabley, Gary A Bellus, Verena Kolbe, Theresa Nauth, Georg Rosenberger
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects. European journal of human genetics : EJHG 28 (11) (2020)