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HOW LYSOSOMES KEEP US HEALTHY.
- Published in:
- Frontiers for Young Minds, 2023, p. 1, doi. 10.3389/frym.2023.1109280
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- Publication type:
- Article
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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- Publication type:
- Article
RAF dimers control vascular permeability and cytoskeletal rearrangements at endothelial cell‐cell junctions.
- Published in:
- FEBS Journal, 2019, v. 286, n. 12, p. 2277, doi. 10.1111/febs.14802
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- Publication type:
- Article
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations.
- Published in:
- British Journal of Haematology, 2018, v. 182, n. 2, p. 251, doi. 10.1111/bjh.15389
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- Publication type:
- Article
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. W1, p. W567, doi. 10.1093/nar/gkx425
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- Publication type:
- Article
LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.
- Published in:
- Acta Medica Iranica, 2016, v. 54, n. 10, p. 620
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- Publication type:
- Article
Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.
- Published in:
- 2016
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- Publication type:
- Case Study
NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 6, p. 533, doi. 10.1007/s10875-016-0306-1
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- Publication type:
- Article
Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 6, p. 523, doi. 10.1007/s10875-015-0178-9
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- Publication type:
- Article
Sec16 Determines the Size and Functioning of the Golgi in the Protist Parasite, Trypanosoma brucei.
- Published in:
- Traffic, 2014, v. 15, n. 6, p. 613, doi. 10.1111/tra.12170
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- Publication type:
- Article