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List of works by Salud Borrego

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

scientific article published on 05 November 2020

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13.

scientific article published on 14 October 2014

Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions

scientific article

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

scientific article

Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development

scientific article published on 09 March 2021

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

scientific article published on 27 March 2012

Multilayer OMIC Data in Medullary Thyroid Carcinoma Identifies the STAT3 Pathway as a Potential Therapeutic Target in RETM918T Tumors.

scientific article

Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.

scientific article published on 14 November 2017

RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer

scientific article published on 06 January 2021

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

scientific article published on 3 October 2016

Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy.

scientific article published on 02 March 2017

What is new about the genetic background of Hirschsprung disease?

scientific article published on 29 July 2019

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

scientific article

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