Detalhe da pesquisa
1.
Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.
Haematologica
; 97(3): 340-3, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22102705
2.
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome.
Circ Genom Precis Med
; 15(1): e003589, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949103
3.
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Sci Adv
; 7(49): eabj9247, 2021 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34860543
4.
Characterization of a novel deletion causing beta-thalassemia major in an Afghan family.
Hemoglobin
; 34(1): 110-4, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20113295
5.
Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population.
Hemoglobin
; 33(6): 406-16, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19958185