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1.
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Blood
; 2024 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38579284
2.
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol
; 136(2): 402-12, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25724123
3.
Evidence and consensus based GKJR guidelines for the treatment of juvenile idiopathic arthritis.
Clin Immunol
; 142(2): 176-93, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22154868
4.
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
Am J Hum Genet
; 84(1): 44-51, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19118815
5.
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES).
J Allergy Clin Immunol
; 130(6): 1426-8, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22981789
6.
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Nat Commun
; 7: 11600, 2016 05 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-27231034
7.
Increasing mixed chimerism is an important prognostic factor for unfavorable outcome in children with acute lymphoblastic leukemia after allogeneic stem-cell transplantation: possible role for pre-emptive immunotherapy?
J Clin Oncol
; 22(9): 1696-705, 2004 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-15117992
8.
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
Nat Med
; 20(12): 1410-1416, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25329329
9.
Outcome of children with centrally reviewed low-grade gliomas treated with chemotherapy with or without radiotherapy on Children's Cancer Group high-grade glioma study CCG-945.
Cancer
; 98(6): 1243-52, 2003 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-12973849
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