Detalhe da pesquisa
1.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Hum Mol Genet;
26(24): 4849-4860, 2017 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29036646
2.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Genome Med;
15(1): 74, 2023 09 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37723522
3.
Renal tumors and hereditary pheochromocytoma-paraganglioma syndrome type 4.
N Engl J Med;
364(9): 885-6, 2011 Mar 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21366490
4.
Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges.
Front Public Health;
7: 40, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30915323
5.
Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus.
Front Public Health;
7: 41, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30915324
6.
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
JCO Precis Oncol;
22018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31517176
7.
Renal tumors associated with germline SDHB mutation show distinctive morphology.
Am J Surg Pathol;
35(10): 1578-85, 2011 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21934479