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1.
A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation.
Clin Immunol
; 207: 40-42, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31301515
2.
A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis.
Clin Immunol
; 183: 198-200, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28917720
3.
A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.
J Allergy Clin Immunol
; 143(4): 1649-1653.e3, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30654050
4.
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.
Clin Immunol
; 188: 20-22, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29170023
5.
Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.
Front Immunol
; 8: 847, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28791010
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