Detalhe da pesquisa
1.
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
Clin Genet
; 88(1): 85-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24890873
2.
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.
Int J Lab Hematol
; 38(4): 412-8, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27320760
3.
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.
J Thromb Haemost
; 10(8): 1653-61, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22672365
4.
Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule.
Thromb Haemost
; 110(3): 618-20, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23925420