Associated Papers
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2017
Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.
Juskevicius D et al.
Journal of Hematology & Oncology, 2017
28302137 (PubMed )
Supplement: 13045_2017_438_MOESM1_ESM.xlsx › Selected_mutations_2016.08.22
Kabuki syndrome: clinical and molecular characteristics.
Cheon CK et al.
Korean Journal of Pediatrics, 2015
The strong association of left-side heart anomalies with Kabuki syndrome.
Yoon JK et al.
Korean Journal of Pediatrics, 2015
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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