Detalhe da pesquisa
1.
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
Am J Med Genet A
; 173(11): 3114-3117, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940926
2.
Development of a highly resolutive method, using a double quadruplex tetra-primer-ARMS-PCR coupled with capillary electrophoresis to study CD40LG polymorphisms.
Mol Cell Probes
; 29(6): 335-342, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26577033
3.
Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population.
Blood Coagul Fibrinolysis
; 29(8): 689-696, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30325339