Detalhe da pesquisa
1.
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
PLoS Genet
; 12(8): e1006248, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27504877
2.
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Am J Med Genet A
; 173(9): 2545-2550, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777483
3.
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
Am J Med Genet A
; 173(10): 2736-2742, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742244
4.
Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
Breast Cancer Res Treat
; 159(3): 585-90, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27581129
5.
HBOC multi-gene panel testing: comparison of two sequencing centers.
Breast Cancer Res Treat
; 152(1): 129-136, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26022348
6.
Chromosome aberration associated with hippocampal impairment.
Psychiatry Res Neuroimaging
; 254: 1-2, 2016 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27285109