Detalhe da pesquisa
1.
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.
J Med Genet
; 60(5): 450-459, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36113988
2.
Clinical and genetic findings in children with central nervous system arteriovenous fistulas.
Ann Neurol
; 82(6): 972-980, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29171923
3.
NUP98-NSD1 fusion by insertion in acute myeloblastic leukemia.
Cancer Genet Cytogenet
; 180(1): 43-6, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18068532
4.
Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR-ABL1 fusion.
Cancer Genet Cytogenet
; 138(1): 22-6, 2002 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12419580
5.
Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature.
Prenat Diagn
; 26(3): 231-8, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16450350