Associated Papers
Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study.
Gaudillière M et al.
Cureus, 2026
Abnormal Immune Profile in Individuals with Kabuki Syndrome.
Comel M et al.
Journal of Clinical Immunology, 2024
Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.
Lee CL et al.
Diagnostics (basel, Switzerland), 2024
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
Lee CL et al.
Diagnostics (basel, Switzerland), 2024
Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.
Zhang W et al.
Bmc Cancer, 2020
32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3
Targeted next generation sequencing reveals high mutation frequency of CREBBP, BCL2 and KMT2D in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.
Evrard SM et al.
Haematologica, 2019
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L et al.
Jama Pediatrics, 2017
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