Detalhe da pesquisa
1.
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.
Am J Med Genet A
; 176(2): 319-329, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194955
2.
Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.
Am J Med Genet A
; 149A(8): 1768-72, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19610080
3.
A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
Horm Res
; 68(1): 32-7, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17308433
4.
Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis.
Hered Cancer Clin Pract
; 2(4): 175-84, 2004 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20233461