List of works - Víctor Faundes

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

scientific article published on 20 November 2018

Appendiceal endometriosis differentially diagnosed from acute appendicitis.

scientific article

Body composition assessment in patients with chronic renal failure

scientific article published on July 2010

Clinical, molecular, and pharmacological aspects of FMR1 related disorders

scientific article published on 16 December 2014

Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations

scientific article published on 12 June 2015

Congenital anomalies of poor prognosis. Genetics Consensus Committee

scientific article published on 24 May 2016

Discovery of novel genetic syndromes in Latin America: Opportunities and challenges

scientific article published in 2024

Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation

scientific article published on 24 August 2016

FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.

scientific article published on 28 June 2016

Hemoperitoneum secondary to bleeding of a hepatic metastasis of testicular carcinoma.

scientific article published on 18 March 2011

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

scientific article

Ibero⁻American Consensus on Low- and No-Calorie Sweeteners: Safety, Nutritional Aspects and Benefits in Food and Beverages

article

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis

scientific article published on 29 December 2015

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

scientific article published on 05 February 2021

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

scientific article published on 03 May 2019

Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities

scientific article published in July 2017

Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: lessons for genetic counseling.

scientific article published on 6 October 2014

Raine syndrome: an overview.

scientific article published on 12 July 2014

List of works by Víctor Faundes