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Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
- Published in:
- Scandinavian Journal of Immunology, 2022, v. 95, n. 4, p. 1, doi. 10.1111/sji.13136
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- Article
A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.
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- Turkish Journal of Pediatrics, 2020, v. 62, n. 2, p. 326, doi. 10.24953/turkjped.2020.02.022
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- Article
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and substantial Proteome Alterations in Neutrophils.
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- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00588
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- Article
Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.
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- Journal of Clinical Immunology, 2015, v. 35, n. 6, p. 523, doi. 10.1007/s10875-015-0178-9
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- Article
Combined Immunodeficiency Evolving into Predominant CD4+ Lymphopenia Caused by Somatic Chimerism in JAK3.
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- Journal of Clinical Immunology, 2014, v. 34, n. 8, p. 941, doi. 10.1007/s10875-014-0088-2
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- Article
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.
- Published in:
- Nature Communications, 2014, v. 5, n. 11, p. 5360, doi. 10.1038/ncomms6360
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- Article
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
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- Nature Genetics, 2014, v. 46, n. 9, p. 1021, doi. 10.1038/ng.3069
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- Article
RNA-interacting proteins act as site-specific repressors of ADAR2-mediated RNA editing and fluctuate upon neuronal stimulation.
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- Nucleic Acids Research, 2013, v. 41, n. 4, p. 2581, doi. 10.1093/nar/gks1353
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- Article