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List of works by Rocío Mena

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

scientific article published on 16 December 2014

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

A new variant in PHKA2 is associated with glycogen storage disease type IXa.

scientific article published on 12 January 2017

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

scientific article published in June 2010

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

scientific article published on 15 February 2018

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

scientific article published on 2 August 2016

New microdeletion and microduplication syndromes: A comprehensive review.

scientific article published on March 2014

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

scientific article published on 8 April 2015

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