List of works - Pedro Louro - Paulina

List of works by Pedro Louro

16q22.1 microdeletion and anticipatory guidance

scientific article published on 29 May 2019

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

scientific article published on 30 November 2016

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

scientific article published on September 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

scientific article published on 26 November 2014

Phenotyping GABA transaminase deficiency: a case description and literature review.

scientific article

Woodhouse-Sakati Syndrome: First report of a Portuguese case

scientific article published on 26 July 2019

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