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List of works by Guillermo Lay-Son

BRCA1 and BRCA2 mutations in a South American population

scientific article published on 01 April 2006

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.

scientific article

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.

scientific article published on 30 October 2014

Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations

article

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

scientific article published on 09 August 2019

Medical genetics and genetic counseling in Chile.

scientific article published on 7 June 2013

Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome.

scientific article published on 29 August 2012

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.

scientific article published on 11 May 2017

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

scientific article published on 16 April 2020

[Current perspectives on genome-based diagnostic tests in Pediatrics]

scientific article published on 01 January 2015

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