Detalhe da pesquisa
1.
Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family.
Genet Mol Biol
; 43(1): e20190126, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32105286
2.
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Mol Genet Genomic Med
; 9(9): e1759, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327855
3.
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries.
Eur J Cancer
; 119: 112-121, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31442815
4.
[Frequency of the most common mutations of the CFTR gene in peruvian patients with cystic fibrosis using the ARMS-PCR technique]. / Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR.
Rev Peru Med Exp Salud Publica
; 34(1): 62-69, 2017.
Artigo
em Espanhol
| MEDLINE | ID: mdl-28538847
5.
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Mol Genet Metab Rep
; 1: 468-473, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896125
6.
[Mucopolysaccharidosis I, Hurler syndrome: a case report]. / Mucopolisacaridosis de tipo I Hurler: informe de un caso.
Arch Argent Pediatr
; 110(5): e103-6, 2012 Oct.
Artigo
em Espanhol
| MEDLINE | ID: mdl-23070190
7.
Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR / Frequency of the most common mutations of the CFTR gene in peruvian patients with cystic fibrosis using the ARMS-PCR technique
Rev. peru. med. exp. salud publica
; 34(1): 62-69, ene.-mar. 2017. tab
Artigo
em Espanhol
| LILACS, LIPECS | ID: biblio-845787
8.
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries
Eur. J. Cancer
; 119: 112-121, 2019. ilus
Artigo
em Inglês
| URUCAN | ID: bcc-5360
9.
Mucopolisacaridosis de tipo I Hurler: Informe de un caso / Mucopolysaccharidosis I, Hurler syndrome: A case report
Arch. argent. pediatr
; 110(5): e103-e106, oct. 2012. ilus
Artigo
em Espanhol
| LILACS | ID: lil-657484
10.
Síndrome de Proteus: presentación de dos casos / Proteus syndrome: presentation of two cases
Dermatol. pediatr. latinoam. (Impr.)
; 5(3): 177-181, set.-dic. 2007. ilus
Artigo
em Espanhol
| LILACS, InstitutionalDB, BINACIS, UNISALUD | ID: biblio-1348361