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Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

artículo científico publicado en 2017

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

artículo científico publicado en 2016

Increasing knowledge in IGF1R defects: lessons from 35 new patients

scientific article published on 05 October 2019

Models for predicting the adult height and age at first menstruation of girls with idiopathic central precocious puberty

artículo científico publicado en 2015

Transcriptional profiling at the domain explains clinical overlap between imprinting disorders

scientific article published on 20 February 2019

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