Associated Papers
Compound inheritance of EHHADH and MASP1 mutations contributes to nonsyndromic cleft lip: familial analysis and zebrafish models.
Swatowska P et al.
Biology Open, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol G et al.
The Journal of Clinical Investigation, 2023
36976641 (PubMed )
Supplement: jci-133-168321-s202.pdf
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves.
Kari E et al.
Neurology. Genetics, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7
Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations.
Kari E et al.
Ear and Hearing, 0
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