Detalhe da pesquisa
1.
A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing.
Eur J Med Genet
; 65(10): 104579, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35933106
2.
Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.
Mol Syndromol
; 12(4): 250-257, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34421504
3.
Breast cancer in males, case presentation and literature review / Cáncer de mama en varones, presentación de caso y revisión de literatura
Rev Med Inst Mex Seguro Soc
; 56(4): 424-428, 2018 11 30.
Artigo
em Espanhol
| MEDLINE | ID: mdl-30521157