| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/AJMG.A.36256 |
| P698 | PubMed publication ID | 24311525 |
| P2093 | author name string | Khalid Hussain | |
| Anbezhil Subbarayan | |||
| P2860 | cites work | MLL2: A new mammalian member of the trx/MLL family of genes | Q22010267 |
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| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 | ||
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| KDM6A point mutations cause Kabuki syndrome | Q28277325 | ||
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| MLL2 mutation spectrum in 45 patients with Kabuki syndrome | Q34161572 | ||
| A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation | Q34283519 | ||
| Kabuki syndrome: a review | Q34554794 | ||
| Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 | ||
| Kabuki make-up syndrome: a review | Q35057647 | ||
| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum | Q35837668 | ||
| Kabuki syndrome revisited | Q37995857 | ||
| Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome | Q46617299 | ||
| Further delineation of Kabuki syndrome in 48 well-defined new individuals. | Q51933516 | ||
| Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. | Q51938985 | ||
| Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. | Q52058585 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | hypoglycemia | Q202758 |
| P1104 | number of pages | 5 | |
| P304 | page(s) | 467-471 | |
| P577 | publication date | 2013-12-05 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Hypoglycemia in Kabuki syndrome. | |
| P478 | volume | 164A |
| Q89105315 | Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency |
| Q89121472 | Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals |
| Q54028104 | Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. |
| Q34910692 | Kabuki Make-up Syndrome - A Case Report with Electromyographic study |
| Q90512980 | Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms |
| Q50504852 | Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. |
| Q37345141 | Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review |
| Q64100352 | The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism |
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