Associated Papers
Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party.
Buso H et al.
Journal of Clinical Immunology, 2024
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
Triaille C et al.
Journal of Clinical Immunology, 2024
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.
Yeo NK et al.
Frontiers in Genetics, 2024
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Complex medical history of a patient with a compound heterozygous mutation in C1QC.
Lubbers R et al.
Lupus, 2019
Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.
Batu ED et al.
The Journal of Rheumatology, 2018
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