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1.
Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.
J Pediatr Hematol Oncol
; 41(4): e266-e269, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30044346
2.
Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.
Clin Immunol
; 173: 121-123, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27713031
3.
Human Immunodeficiency Virus (HIV)-Antibody Repertoire Estimates Reservoir Size and Time of Antiretroviral Therapy Initiation in Virally Suppressed Perinatally HIV-Infected Children.
J Pediatric Infect Dis Soc
; 8(5): 433-438, 2019 Nov 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30169837
4.
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia.
Front Immunol
; 10: 130, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30837984
5.
Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Front Immunol
; 10: 1184, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31214169
6.
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Front Immunol
; 10: 316, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31031743
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