Search filters

List of works by João Silva

CADASIL: MRI may be normal in the fourth decade of life - a case report

scientific article published on 7 December 2015

Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe

scientific article published on 17 May 2017

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome

scientific article

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

scientific article (publication date: February 2012)

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

scientific article

Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism.

scientific article published on 19 December 2014

Redefining the MED13L syndrome

scientific article

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations

scientific article published on 16 July 2015

The contribution of 7q33 copy number variations for intellectual disability

scientific article published on 19 December 2017

[Genetics on Primary Healthcare: A Multidisciplinary Perspective]

scientific article published on 31 October 2016

Paulina is supported by:

About Paulina

Help