Detalhe da pesquisa
1.
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Genet Med
; 18(4): 364-71, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26226137
2.
Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.
BMC Med Genet
; 16: 9, 2015 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25928534
3.
Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.
Mol Genet Genomic Med
; 8(2): e1087, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31830383
4.
Association between the APOE ε4 Allele and Late-Onset Alzheimer's Disease in an Ecuadorian Mestizo Population.
Int J Alzheimers Dis
; 2017: 1059678, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29348964
5.
La importancia de un diagnóstico clínico temprano en la distrofia muscular de Duchenne: mutaciones encontradas en siete pacientes ecuatorianos / The importance of early clinical diagnosis in Duchenne muscular dystrophy: mutations found in seven Ecuadorian patients
VozAndes
; 27(1): 7-14, 2016.
Artigo
em Inglês
| LILACS | ID: biblio-999421