| P2093 | author name string | M Macek | |
| | J Geryk | |
| | A Maver | |
| | A Holubová | |
| | A Křepelová | |
| | A Puchmajerová | |
| | M Malíková | |
| | S Vejvalková | |
| | J Drábová | |
| | J Paděrová | |
| | M Havlovicová | |
| | M Šenkeříková | |
| | M Simandlová | |
| | M Vlčková | |
| | N Ptáková | |
| | R Pourová | |
| 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 |
| | ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation | Q28215614 |
| | Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome | Q28256091 |
| | A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation | Q33872910 |
| | Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency | Q34057213 |
| | Regulation of histone H3K4 methylation in brain development and disease | Q34079415 |
| | MLL2 mutation spectrum in 45 patients with Kabuki syndrome | Q34161572 |
| | 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 |
| | Unmasking Kabuki syndrome | Q34310239 |
| | Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. | Q34522233 |
| | Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients | Q35121146 |
| | How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum | Q35837668 |
| | Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). | Q38188009 |
| | Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature | Q38445051 |
| | MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. | Q50237955 |
| | Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome. | Q50748004 |
| | Clinical and molecular spectrum of renal malformations in Kabuki syndrome. | Q50751500 |
| | MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. | Q50789773 |
| | Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. | Q51737712 |
| P433 | issue | 3 | |
| P921 | main subject | Kabuki syndrome | Q1538227 |
| P304 | page(s) | 230-237 | |
| P577 | publication date | 2016-02-04 | |
| P1433 | published in | Clinical Genetics | Q5133760 |
| P1476 | title | Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring. | |
| P478 | volume | 90 | |