T

Researcher Profile

The DDD study

🏛 Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK

1

Publications

85

Citations

10

Co-Authors

1

Active Years

Publications

Journal Article Journal of Medical Genetics Nov 02, 2017

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Margot R F Reijnders · Robert Janowski · Mohsan Alvi · Jay E Self +49 more

10.1136/jmedgenet-2017-104946 85 citations

Publication Timeline

2017

1

Frequent Co-Authors

James J Dowling

Jan Maarten Cobben

Robert Janowski

Karen S Carvalho

Maaike Vreeburg

Sarah F Smithson