Wolfram Demaerel

Publication Activity (10 Years)

Years Active: 2019-2019
Publications (10 Years): 1

Top Topics

Muscular Dystrophy

Genome Wide Analysis

Top Venues

Genetics in medicine : official journal of the American College of Medical Genetics

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

Publications

Marta Unolt, Molka Kammoun, Sebastian Kwiatkowski, Gail E Graham, Terrence Blaine Crowley, Matthew S Hestand, Wolfram Demaerel, Maciej Geremek, Beverly S Emanuel, Elaine H Zackai, Joris R Vermeesch, Donna M McDonald-McGinn
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)