| Q34186982 | A mutation screen in patients with Kabuki syndrome |
| Q33412879 | Autoimmune haematological disorders in two Italian children with Kabuki syndrome |
| Q33243923 | BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome |
| Q35086393 | Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene |
| Q30829917 | CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes |
| Q89105315 | Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency |
| Q52517700 | Congenital heart defects in molecularly proven Kabuki syndrome patients. |
| Q51847255 | Craniosynostosis in Kabuki syndrome |
| Q43084995 | Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome |
| Q33426259 | Epigenetic control of the immune system: a lesson from Kabuki syndrome |
| Q54482735 | Hypoglycemia in Kabuki syndrome. |
| Q58193351 | Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome |
| Q36425821 | Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation |
| Q35749338 | Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association |
| Q35821188 | Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development |
| Q37995857 | Kabuki syndrome revisited |
| Q38256639 | Kabuki syndrome: clinical and molecular diagnosis in the first year of life |
| Q36756552 | Kabuki syndrome: diagnostic and treatment considerations |
| Q50687968 | Lower lip pits: van der woude or kabuki syndrome? |
| Q51737712 | Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. |
| Q55497837 | Neurobehavioral features in individuals with Kabuki syndrome. |
| Q37364549 | Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study |
| Q52861892 | On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion. |
| Q98292753 | Overexpression of serotonin receptor 5b expression rescues neuronal and behavioral deficits in a mouse model of Kabuki syndrome |
| Q51960780 | Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement. |
| Q56262003 | Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature |
| Q36504775 | Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. |
| Q57807985 | Speech and language in a genotyped cohort of individuals with Kabuki syndrome |
| Q93043682 | Structural Genome Variations Related to Craniosynostosis |
| Q45423315 | Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples. |
| Q28512053 | The C20orf133 gene is disrupted in a patient with Kabuki syndrome |
| Q34531748 | The C20orf133 gene is disrupted in a patient with Kabuki syndrome |
| Q52026885 | The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome. |
| Q35976439 | The strong association of left-side heart anomalies with Kabuki syndrome |
| Q34310239 | Unmasking Kabuki syndrome |
| Q38728734 | When the face says it all: dysmorphology in identifying syndromic causes of epilepsy |