| scholarly article | Q13442814 |
| P2093 | author name string | Jun Lu | |
| Lijuan Ji | |||
| Guiling Mo | |||
| Yaojun Ling | |||
| P2860 | cites work | Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome | Q24607321 |
| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 | ||
| Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome | Q28256091 | ||
| ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 | ||
| The Interplay between Emotion and Cognition in Autism Spectrum Disorder: Implications for Developmental Theory | Q30459172 | ||
| Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency | Q34057213 | ||
| A mutation screen in patients with Kabuki syndrome | Q34186982 | ||
| A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation | Q34283519 | ||
| KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation | Q34385576 | ||
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
| Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 | ||
| Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients | Q35121146 | ||
| Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome | Q35524938 | ||
| Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations | Q35610421 | ||
| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum | Q35837668 | ||
| Kabuki syndrome: diagnostic and treatment considerations | Q36756552 | ||
| Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder | Q36844479 | ||
| A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome | Q39353063 | ||
| Kabuki syndrome: a challenge for the primary care provider | Q44574636 | ||
| Immunologic assessment and KMT2D mutation detection in Kabuki syndrome. | Q50354501 | ||
| [Kabuki syndrome: Update and review]. | Q53521639 | ||
| Speech and language in a genotyped cohort of individuals with Kabuki syndrome | Q57807985 | ||
| An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome | Q87956582 | ||
| P433 | issue | 4 | |
| P921 | main subject | Kabuki syndrome | Q1538227 |
| P304 | page(s) | 3641-3645 | |
| P577 | publication date | 2016-08-26 | |
| P1433 | published in | Molecular Medicine Reports | Q26842180 |
| P1476 | title | A novel KMT2D mutation resulting in Kabuki syndrome: A case report | |
| P478 | volume | 14 |
| Q60548369 | Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome | cites work | P2860 |
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