Associated Papers
Kabuki syndrome complicated by severe immune thrombocytopenia and autoimmune thyroiditis: Identification of a novel pathogenic mutation.
Qu X et al.
British Journal of Haematology, 2024
Machine learning models-based on integration of next-generation sequencing testing and tumor cell sizes improve subtype classification of mature B-cell neoplasms.
Mu Y et al.
Frontiers in Oncology, 2023
37601650 (PubMed )
Supplement: Table_1.xlsx › Supplement_Tab.3
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2017
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
Cheon CK et al.
Journal of Human Genetics, 2014
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