Hugo Hernan Abarca Barriga
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Explore the profile of Hugo Hernan Abarca Barriga including associated specialties, affiliations and a list of published articles.
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4
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33
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Recent Articles
1.
Abarca Barriga H, Chavesta Velasquez F, Barletta Carrillo C, Paucarmayta Tacuri A, Bazan Hurtado M, Vasquez Loarte T, et al.
Rev Fac Cien Med Univ Nac Cordoba
. 2022 Jun;
79(2):132-140.
PMID: 35700460
Introduction: Congenital abnormalities could be caused by copy number variation or homozygous variants inherited of parental consanguineous. Purpose. Objetive: To show copy number variants and regions of homozygosity in neonates...
2.
Trubnykova M, Bazalar Montoya J, La Serna-Infantes J, Vasquez Sotomayor F, Castro Mujica M, Abarca Barriga H
Mol Syndromol
. 2019 Oct;
10(4):186-194.
PMID: 31602190
Pathogenic variants of the gene (1q21.3) are linked to intellectual disability autosomal dominant type 18 (MRD18; MIM 615074), characterized by dysmorphic features, psychomotor and language delay. We present an 11-year-old...
3.
Kruszka P, Porras A, de Souza D, Moresco A, Huckstadt V, Gill A, et al.
Am J Med Genet A
. 2018 Apr;
176(5):1128-1136.
PMID: 29681090
Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not...
4.
Abarca Barriga H, Trubnykova M, Polar Cordoba V, Ramos Diaz K, Aviles Alfaro N
Rev Chil Pediatr
. 2016 May;
87(6):494-499.
PMID: 27143505
Introduction: H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling....