Detalhe da pesquisa
1.
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.
Clin Genet
; 93(5): 1049-1056, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29282712
2.
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.
Neurogenetics
; 17(2): 83-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26803492
3.
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Genet Med
; 18(4): 405-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110232
4.
Is colorectal surveillance indicated in patients with PTEN mutations?
Colorectal Dis
; 14(9): e562-6, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22672595
5.
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
Clin Genet
; 78(3): 275-81, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20236121