Associated Papers
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
37480025 (PubMed )
Supplement: 13023_2023_2809_MOESM1_ESM.pdf
Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.
Gajek G et al.
International Journal of Molecular Sciences, 2020
Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement.
Pihl R et al.
Journal of Immunology (baltimore, Md. : 1950), 2017
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