Detalhe da pesquisa
1.
Clinical Cancer Genetics Disparities among Latinos.
J Genet Couns
; 26(3): 379-386, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-27957667
2.
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Hered Cancer Clin Pract
; 15: 3, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28127413
3.
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
Nature
; 465(7299): 808-12, 2010 Jun 10.
Artigo
Inglês
| MEDLINE | ID: mdl-20535210
4.
Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 146A(2): 219-24, 2008 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18076104
5.
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
J Med Genet
; 44(2): 136-43, 2007 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-16971481
6.
Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico.
J Neuromuscul Dis
; 3(2): 261-266, 2016 05 27.
Artigo
Inglês
| MEDLINE | ID: mdl-27854217
7.
Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.
J Clin Neuromuscul Dis
; 17(2): 59-62, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26583491
8.
Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.
Fam Cancer
; 14(3): 415-25, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25782445
9.
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia.
Cell Rep
; 13(3): 504-515, 2015 Oct 20.
Artigo
Inglês
| MEDLINE | ID: mdl-26456833
10.
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Nat Genet
; 46(6): 635-639, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24777450