Associated Papers
Systematic phenotype and genotype characterization of Moebius syndrome.
Webb BD et al.
Genetics in Medicine Open, 2025
40662098 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_8
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.
Shoda T et al.
Nature Communications, 2021
34815391 (PubMed )
Supplement: 41467_2021_26939_MOESM1_ESM.pdf
Screening of genes encoding junctional candidates in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Gandjbakhch E et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2013
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