Resham Ejaz

Publication Activity (10 Years)

Years Active: 2017-2017
Publications (10 Years): 2

Top Topics

Intellectual Disability

Muscular Dystrophy

Genome Wide Analysis

Top Venues

American journal of medical genetics. Part A

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

Publications

Resham Ejaz, Anath C Lionel, Susan Blaser, Susan Walker, Stephen W Scherer, Riyana Babul-Hirji, Christian R Marshall, Dimitri J Stavropoulos, David Chitayat
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. American journal of medical genetics. Part A 173 (10) (2017)
Graeme A M Nimmo, Resham Ejaz, Dawn Cordeiro, Peter Kannu, Saadet Mercimek-Mahmutoglu
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. American journal of medical genetics. Part A 176 (2) (2017)