Maria J Nabais Sá

Publication Activity (10 Years)

Years Active: 2021-2021
Publications (10 Years): 1

Top Topics

Intellectual Disability

Autism Spectrum Disorder

Genome Wide Analysis

Top Venues

Journal of medical genetics

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

Publications

Maria J Nabais Sá, Kerry A Miller, Mary McQuaid, Nils Koelling, Andrew O M Wilkie, Hugo Wurtele, Arjan P M de Brouwer, Jorge Oliveira
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis. Journal of medical genetics (2021)