List of works - Nuno Maia - Paulina

List of works by Nuno Maia

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

scientific article

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

scientific article published on 27 October 2016

Intellectual disability genomics: current state, pitfalls and future challenges

publication published on 20 December 2021

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome

scientific article published on 29 August 2017

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>

scientific article published on 30 July 2020

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