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A Pliable Mediator Acts as a Functional Rather Than an Architectural Bridge between Promoters and Enhancers

artículo científico publicado en 2019

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders

artículo científico publicado en 2016

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

artículo científico publicado en 2017

Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.

artículo científico publicado en 2016

Could sperm grade under high magnification condition predict IMSI clinical outcome?

artículo científico publicado en 2014

DeltaN TP63 reactivation, epithelial phenotype maintenance, and survival in lung squamous cell carcinoma

artículo científico publicado en 2011

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

scientific article published on 01 July 2019

MET overexpression and activation favors invasiveness in a model of anaplastic thyroid cancer

scientific article published on 19 March 2019

Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.

artículo científico publicado en 2014

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.

artículo científico publicado en 2018

Optical genome mapping enables constitutional chromosomal aberration detection

artículo científico publicado en 2021

Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting

artículo científico publicado en 2019

The Energetics and Physiological Impact of Cohesin Extrusion

artículo científico publicado en 2018

The Energetics and Physiological Impact of Cohesin Extrusion

scientific article published on 01 September 2018

ZP2 heterozygous mutation in an infertile woman.

artículo científico publicado en 2017

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