Associated Papers
ACE-Dependent Alzheimer's Disease: Blood ACE Phenotyping of the Most Prevalent and Damaging ACE Missense Mutation-Y215C (rs3730025).
Buianova AA et al.
Biomedicines, 2026
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P4-potential_comp.het.
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G et al.
Plos One, 2023
37540677 (PubMed )
Supplement: pone.0288336.s003.xlsx › Supplementary_Table_II
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Zarrei M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28771244 (PubMed )
Supplement: gim201783x4.xlsx › de_novo
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