Associated Papers
Malignant melanoma arising in a sebaceous naevus leading to the discovery of a pathogenic germline MUTYH mutation: a case report.
Hennemann A et al.
Clinical and Experimental Dermatology, 2025
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33674768 (PubMed )
Supplement: 41436_2021_1119_MOESM2_ESM.xlsx › S1
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
33862582 (PubMed )
Supplement: mmc3.xlsx › S5
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Van Laarhoven PM et al.
Human Molecular Genetics, 2015
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